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N790 Program "Clinical Endocrinology, Metabolism and Nutrition"

CLINICAL ENDOCRINOLOGY,METABOLISM AND NUTRITION

Thesis Program of the Curriculum N790

Doctor of Applied Medical Science

Coordinator

Thomas M. Stulnig, Associate Professor, Clinical Division of Endocrinology and Metabolism,Department of Internal Medicine III, Medical University of Vienna, Whringer Grtel 18-20,1090 Vienna, Austria; phone: +43 1 40400 4368; fax: +43 1 40400 7790;E-mail: thomas.stulnig@meduniwien.ac.at

General Description and Aims

Endocrinology and metabolism are traditionally linked to each other not only in clinicalsettings. Due to the importance of hormones to regulate metabolism of individual cells,tissues and whole organisms, regulatory mechanisms in metabolism and endocrine axes oftenfollow common mechanisms. Following the elucidation of endocrine regulatory mechanismsand principal metabolic pathways in the midst of the 20th century, recent developments inmethods of molecular biology and in vivoinvestigations have now paved the way for furthersignificant progress in the field of endocrinology and metabolism. Beginning with themolecular identification of transcription factors for genes implicated in metabolic andendocrine regulations up to in vivoNMR spectroscopy for analysis of metabolic regulation inhumans these novel methods will facilitate essential contributions for the elucidation ofendocrine and metabolic regulations and enable the development of novel therapeuticapproaches. A prerequisite for this progress to occur in research and clinics is the availabilityof trained researchers and clinicians.

The clinical approach to patients suffering from disorders in hormone and metabolichomeostasis has changed in parallel with basic scientific progress, e.g., by the advancementsin molecular genetics and their application for diagnosis of a multitude of disorders.Moreover, the prevalence of endocrine and metabolic diseases has shifted, e.g., due to theincreased frequency of obesity and the increasing age in our population. Hence it is expectedthat the field of endocrinology and metabolism will be subject to further exciting

developments in the near future.It is the aim of the Doctoral Program of Applied Medical Science on "Endocrinologyand Metabolism" to train young scientists and professionals practising Endocrinology andMetabolism in its broadest sense for independent scientific work in medical and associatedprofessions. The symbiosis of science and practice will be accomplished by combiningscientific experience and guidance with practical seminars. As a result, graduates will beprepared to apply scientific and practical methods in his/her profession in order tocontinuously improve professional practice and effectivity, to take responsibility for changingsituations and to address modern issues of Endocrinolgy and Metabolism by independentapplication-oriented research projects. In addition, graduates will be trained in presentingresults to other specialists in the field and to educate laypersons likewise.

Principles of endocrinology and metabolism are not only scientifically and clinicallypresent in the specialty of internal medicine, but also in gynecology, pediatrics, surgery and

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nutritional medicine. The lecturers and principal investigators of this doctoral study programwork in diverse areas from basic sciences up to various clinical disciplines and provideopportunities for scientific research in diverse aspects of the field of endocrinology andmetabolism including nutrition. Thematically, the program comprises mainly application-oriented theses from translational research up to diagnostics and therapeutic approaches.

Methodologically, the spectrum comprises a broad array of biochemistry and molecularbiology up to in vivoinvestigations and clinical trials.In the framework of this doctoral study, the student will scientifically work in a well-

defined thematic segment under supervision of an experienced principal investigator. Aim ofthe scientific work is the compilation of a doctoral thesis. In addition, the student will havethe possibilities to gain theoretical knowledge in endocrinology and metabolism in itsbroadest sense and in various methods for its investigation, e.g. in basic seminars. Ownscientific works will be accompanied by critical discussion of scientific results from othergroups in journal clubs. Current research projects of involved groups will be discussed inthesis seminars. Practical seminars are specific to the Applied Doctoral Study Program.Practical seminars will give guidance to professional application of modern achievements and

prepare for dissemination of current knowledge to laypersons. These instruments will put ownscientific work into the context of other scientific and practical achievements to promoteskilled independent work and application of scientific methods. Furthermore, practical andthesis seminars advance students presentation skills.

The Medical University of Vienna has established a research focus concentratingscientific resources on various aspects of metabolism including efforts on the investigation oftype 2 diabetes mellitus and the metabolic syndrome, diabetic complications, high-field NMRspectroscopy of metabolic intermediates, mechanisms of metabolic regulation, interference ofmetabolism with immunological and inflammatory mechanisms, inherited metabolicdisorders, and (neuro)endocrine regulation. The Applied Doctoral Study program"Endocrinology and Metabolism" strengthens these efforts and provides a unique opportunityfor students to promote their graduation while interacting with a critical mass of expertprincipal investigators and clinicians.

The participating university teachers belong to three groups according to their roles inthe Applied Doctoral Study Program Endocrinology and Metabolism:1. Supervisors (S) possess remarkable scientific output and are experienced professionally

and in training doctoral students. They give lectures and supervise students in their thesisprojects.

2. Young supervisors (YS) comprise particularly ambitious principal investigators who areon the way but have not yet achieved a venia docendi (Habilitation). Youngsupervisors are supported by experienced supervisors. Students guided by young

supervisors meet more often with the thesis committee, i.e. every 6 months, instead of theusual yearly meetings to guarantee the highest level of education. Young supervisorscontribute to the courses as do other teachers and students benefit by obtaining insight intomore technical details.

3. Lecturers (L) comprise teachers who currently do not fulfill all criteria or abstain fromsupervising students but have considerable knowledge and experience in a given area.Lecturers contribute to the courses often by presenting a particularly practical approach.

Last but not least it is emphasized that the current version of the program with itscontributing principal investigators and lecturers is regarded as a preliminary nucleus. Theprogram is designed to integrate more teachers and institutions in order to cover the field ofendocrinology and metabolism and related disciplines in all theoretical and practical aspects.

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Recommended Literature

The Metabolic and Molecular Bases of Inherited Disease / Charles R. Scriver (Editor),

William S. Sly (Editor), Barton Childs, Arthur L. Beaudet, David Valle, Kenneth W.Kinzler, Bert Vogelstein; McGraw-Hill Professional; 8th edition (2000) - 4 volume set,6338 pages.

Williams Textbook of Endocrinology / P. Reed Larsen et al.; Saunders, Philadelphia, Pa.[u.a.], 10th ed., 2003. - XXIII, 1927 pages.

Textbook of Endocrine Physiology / ed. by James E. Griffin.; Oxford Univ. Press ,Oxford, 4th ed., 2000. - X, 479 pages.

Neuroendocrinology in Physiology and Medicine / ed. P.Michael Conn, Marc E. Freeman;Humana Press, Totowa, NJ, 2000.

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Courses

Propedeutics

The propedeutics will be an obligatory part of the Applied Medical Science doctoral study.Six semester hours (SHrs) have to be completed with emphasis on natural science or medicalcourses for graduates from medical and non-medical studies, respectively. Please followgeneral regulations for the Applied Doctoral Science study as posted.

Basic Seminar

The Basic Seminar is held in winter semsters only (2 semester hours) comprising twodifferent sets of themes (I and II). In total 4 SHrs must be completed for the thesis program.

The Basic Seminar will provide a broad overview of the field of Endocrinology andMetabolism including nutritional aspects.

VO Basic Seminar "Endocrinology andMetabolism [I/II]";

2 SHrs (compulsory course); English; personalregistration by email to Prof. Th. Stulnig(thomas.stulnig@meduniwien.ac.at)

Sabina Baumgartner-Parzer, ChristianBieglmayer, Martin Bischof, OlafBodamer, Wilfred Druml, ManuelaFdinger, Clemens Frnsinn, GabrieleHusler, Jrg Michael Hiesmayr,Alexandra Kautzky-Willer, MichaelKrebs, Bernhard Ludvik, Anton Luger,Wolfgang Marktl, Bruno Niederle, Peter

Pietschmann, Gerhard Prager, ErichRoth, Thomas Stulnig, WalterTschugguel, Nicole Unger-Manhart,Heinrich Vierhapper, Ludwig Wagner,Kurt Widhalm

BASIC SEMINAR I

Title Teacher

Congenital adrenal hyperplasia S. Baumgartner-ParzerModern methods of clinical laboratory analysis C. Bieglmayer

In vivo studies on hepatic glycogen metabolism M. Bischof

Stable isotope techniques-basics and applications O. Bodamer

Clinical Nutrition and Infusion Therapy 1 W. Druml

Molecular methods in research and diagnostics ofmetabolic diseases 1

M. Fdinger

Basics for working with experimental animals C. Frnsinn

Physiology and pathophysiology of growth G. Husler

Epidemiology of malnutrition M. Hiesmayr

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Gestational diabetes A. Kautzky-Willer

Insulin resistance M. Krebs

Obesity B. Ludvik

Physiology of the hypothalamic-pituitary regulation A. Luger

Physiology of nutrition and pathophysiology ofmacronutrients

W. Marktl

Endocrine surgery 1 B. Niederle

Bone biology P. Pietschmann

Bariatric surgery 1 G. Prager

Protein catabolism, post-aggression phase,immunonutrition 1

E. Roth

Lipid metabolism and hyperlipidemia Th. Stulnig

Pathophysiology of estrogen-dependent diseases W. TschugguelD-A-CH Reference values for food intake N. Unger-Manhart

Adrenal glands H. Vierhapper

Genes relevant in endocrine tumorigenesis L. Wagner

Familial hypercholesterolemia in childhood andadolescence

K. Widhalm

BASIC SEMINAR II

Title Teacher

Multiple Endocrine Neoplasia 2 S. Baumgartner-Parzer

Interpretation of endocrinological lab results C. Bieglmayer

Hypoglycemia counterregulation in type 1 diabetes M. Bischof

Analytical techniques for quantification of small molecules O. Bodamer

Clinical Nutrition and Infusion Therapy 2 W. Druml

Molecular methods in research and diagnostics ofmetabolic diseases 2

M. Fdinger

From cell culture to the whole organism: experimentalapproaches

C. Frnsinn

Basic scientific aspects of growth G. Husler

Stresshyperglycemia, nutritive intervention in hospitalizedpatients

M. Hiesmayr

Pregnancy in patients with type 1 and type 2 diabetesmellitus

A. Kautzky-Willer

Direct and indirect effects of nutrients on glucosemetabolism

M. Krebs

Metabolic syndrome B. Ludvik

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New developments in the regulation of appetite and bodyweight

A. Luger

Physiology of nutrition and pathophysiology of vitaminsand trace elements

W. Marktl

Endocrine surgery 2 B. NiederleBariatric surgery 2 G. Prager

Pathogenesis and treatment of osteoporosis P. Pietschmann

Protein catabolism, post-aggression phase,immunonutrition 2

E. Roth

Dyslipidemias and polyunsaturated fatty acids Th. Stulnig

Pathophysiology of endometriosis W. Tschugguel

Polyphenols: anitoxidants and signalling molecules? N. Unger-Manhart

Thyroid gland H. Vierhapper

The beta cell and insulin transcription L. Wagner

Principles and evidence for a preventive nutrition K. Widhalm

Journal Club

The Journal Clubs (critical paper reviews) are held on a weekly basis by the programsteachers. Currently, a single Journal Club is established each term. In total 12 SHrs must becompleted for the thesis program.

Title Lecturer(s)

SE Journal Club "Endocrinology and Metabolism[Semester]";

2 SHrs (compulsory course); English; personalregistration by email to Prof. Th. Stulnig(thomas.stulnig@meduniwien.ac.at)

Contents: presentation and critical discusssion ofpublished papers

Sabina Baumgartner-Parzer, ChristianBieglmayer, Martin Bischof, OlafBodamer, Wilfred Druml, ManuelaFdinger, Clemens Frnsinn, GabrieleHusler, Jrg Michael Hiesmayr,Alexandra Kautzky-Willer, MichaelKrebs, Bernhard Ludvik, Anton Luger,Wolfgang Marktl, Bruno Niederle, PeterPietschmann, Gerhard Prager, ErichRoth, Thomas Stulnig, WalterTschugguel, Nicole Unger-Manhart,Ludwig Wagner, Kurt Widhalm

Compulsory Optional Courses

According to the curriculum, each student must attend a total of 12 SHrs of Thesis Seminarsand 4 SHrs of Practical Seminars, i.e. a total of 16 SHrs. More elective courses are to beannounced in the future. Please see the current index of courses of the Medical University of

Vienna for details

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Title Lecturer(s)

SE Thesis Seminar "Endocrinology andMetabolism [Semester]"

2 SHrs; English; personal registration by email to

Prof. T. Stulnig (thomas.stulnig@meduniwien.ac.at)Contents: presentation and critical discussion ofthesis projects

Sabina Baumgartner-Parzer, ChristianBieglmayer, Martin Bischof, OlafBodamer, Wilfred Druml, ManuelaFdinger, Clemens Frnsinn, GabrieleHusler, Jrg Michael Hiesmayr,Alexandra Kautzky-Willer, MichaelKrebs, Bernhard Ludvik, Anton Luger,Wolfgang Marktl, Bruno Niederle, PeterPietschmann, Gerhard Prager, Erich Roth,Thomas Stulnig, Walter Tschugguel,Nicole Unger-Manhart, Ludwig Wagner,Kurt Widhalm

SE Practical Seminar "Endocrinology andMetabolism [Semester]"

2 SHrs; English; personal registration by email toProf. T. Stulnig (thomas.stulnig@meduniwien.ac.at)

Contents: Case studies in endocrinology andmetabolism will be presented in an interactivemanner in order to promote analytical thinking andpractical problem solving; depending on theteaching faculty member, clinical cases orlaboratory problems will be addressed; ethical andsocietal issues are to be discussed; another focuswill be made on presentation techniques in order to

teach students to communicate clinical issues andscientific results in an easy to understand language

Sabina Baumgartner-Parzer, ChristianBieglmayer, Martin Bischof, Olaf

Bodamer, Wilfred Druml, ManuelaFdinger, Clemens Frnsinn, GabrieleHusler, Jrg Michael Hiesmayr,Alexandra Kautzky-Willer, MichaelKrebs, Bernhard Ludvik, Anton Luger,Wolfgang Marktl, Bruno Niederle, PeterPietschmann, Gerhard Prager, Erich Roth,Thomas Stulnig, Walter Tschugguel,Nicole Unger-Manhart, Ludwig Wagner,Kurt Widhalm

Elective Courses

Please see the current index of courses of the Medical University of Vienna for details onelective courses for doctoral study programs.

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Experimental Techniques

Methods Working groups

in vitromethods

apoptosis / proliferation assays Baumgartner-Parzer, Unger-Manhart, Roth

bone histomorphometry Pietschmann

cell culture, cell lines Stulnig, Luger, Wagner, Bodamer, Unger-Manhart

cell culture, perfusion model Luger

cell culture, primary Stulnig, Baumgartner-Parzer, Pietschmann,

Luger, Wagner, Bodamer, Huslerenzymatics Bodamer

FACS - dynamic measurements (calcium etc.) Stulnig

FACS - immunofluorescence Stulnig, Baumgartner-Parzer, Pietschmann,Wagner, Unger-Manhart

fatty acid analysis (GC) Stulnig

fluorescence microscopy Stulnig, Wagner

gas chromatography Stulnig, Bodamer

gene expression profiling (microarrays) Stulnig, FdingerHPLC, FPLC and other chromatographic analyses Wagner, Bodamer, Roth

immunohistochemistry Baumgartner-Parzer, Husler

immunoassays (ELISA, FIA, RIA etc.) Pietschmann, Bodamer

immunoblotting Stulnig, Baumgartner-Parzer, Frnsinn,Krebs, Husler

immunoprecipitation Stulnig, Wagner

isolated muscle incubation Frnsinn

lipoprotein ultracentrifugation Stulnig

magnetic cell sorting Stulnig

mass spektrometry Bodamer

metabolic labeling Stulnig, Wagner

metabolic rates with radioactive tracers Frnsinn

mikronukleation in lymphocytes Bodamer

northern blotting Stulnig, Baumgartner-Parzer, Frnsinn,Wagner, Bodamer, Fdinger

PCR, genomic Baumgartner-Parzer, Fdinger

PCR, on chip Bodamer

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PCR, real-time (quantitativ, SNP) Stulnig, Pietschmann, Wagner, Fdinger,Husler

PCR, reverse transciptase (RT-PCR) Stulnig, Pietschmann, Wagner, Fdinger

protein expression Wagner

protein sequencing Bodamerreporter gen assay Stulnig, Baumgartner-Parzer, Wagner

RFLP Baumgartner-Parzer, Fdinger

sequencing Baumgartner-Parzer, Fdinger

southern blotting Baumgartner-Parzer, Fdinger

spectrophotometric enzyme analyses Frnsinn

SSCP Bodamer

subcellular fractionation Stulnig, Wagner

tissue explants (adipose) Stulnigtransfection, gene expression Stulnig, Wagner

in vivomethods - animal experiments

effects of antidiabetic drugs in rats Frnsinn

mouse models Stulnig, Pietschmann, Bodamer, Unger-Manhart

rat models Pietschmann

stabile isotope application Bodamer

in vivomethods - experiments in humans

body composition measurement Widhalm

epidemiology of malnutrition Hiesmayr

indirect calorimetry Hiesmayr

magnetic resonance spectroscopy, multi-nuclear Roden, Bischof, Krebs, Bodamer

muscle biopsy Krebs

nutritional training, assessment of nutritionalstatus Widhalm, Roth, Unger-Manhart, Druml,Hiesmayr

positron emission spectroscopy Bischof, Krebs

stabile isotope technique (protein turnover,glucose turnover, gluconeogenesis,methionine-homocysteine metabolism)

Roden, Bischof, Krebs, Bodamer

tests of endocrine function Luger

tests of insulin secretion and insulin sensitivity Roden, Bischof, Kautzky-Willer, Krebs

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Facultyincl. contact information and role in the program

Principal investigator E-mail Role*Ao.Univ.Prof.DI.Dr. Sabina Baumgartner-Parzer

sabina.baumgartner-parzer@meduniwien.ac.at S

Ao.Univ.-Prof. Dr. Christian Bieglmayer christian.bieglmayer@akhwien.at L

Ao.Univ.-Prof. Dr. Martin Bischof martin.bischof@meduniwien.ac.at S

Ao.Univ.-Prof. Dr. Olaf Bodamer olaf.bodamer@meduniwien.ac.at S

Ao. Univ.-Prof. Dr. Wilfred Druml wilfred.druml@meduniwien.ac.at L

Ao. Univ.-Prof. Dr. Manuela Fdinger manuela.foedinger@meduniwien.ac.at YSAo. Univ.-Prof. Dr. Clemens Frnsinn clemens.fuernsinn@meduniwien.ac.at S

Ao. Univ.-Prof. Dr. Gabriele Husler gabriele.haeusler@meduniwien.ac.at L

Ao. Univ.-Prof. Dr. Michael Hiesmayr michael.hiesmayr@meduniwien.ac.at L

Ao. Univ.-Prof. Dr. Alexandra Kautzky-Willer

alexandra.kautzky-willer@meduniwien.ac.at S

Ao. Univ.-Prof. Dr. Michael Krebs michael.krebs@meduniwien.ac.at S

Ao.Univ.-Prof. Dr. Bernhard Ludvik bernhard.ludvik@meduniwien.ac.at S

Ao.Univ.Prof. Dr. Anton Luger anton.luger@meduniwien.ac.at S

Ao.Univ.-Prof. Dr. Wolfgang Marktl wolfgang.marktl@meduniwien.ac.at L

Ao.Univ.-Prof. Dr. Bruno Niederle bruno.niederle@meduniwien.ac.at S

Ao. Univ.Prof. Dr. Peter Pietschmann peter.pietschmann@meduniwien.ac.at S

Univ.-Doz. Dr. Gerhard Prager gerhard.prager@meduniwien.ac.at S

Prim. ao.Univ.-Prof. Dr. Michael Roden michael.roden@wgkk.sozvers.at S

ao.Univ.-Prof. DI. Dr. Erich Roth erich.roth@meduniwien.ac.at S

Ao.Univ. Prof. Dr. Thomas Stulnig thomas.stulnig@meduniwien.ac.at S

Ao.Univ.Prof. Dr. Walter Tschugguel walter.tschugguel@meduniwien.ac.at S

Univ.-Doz. Mag. Dr. Nicole Unger-Manhart nicole.unger-manhart@meduniwien.ac.at L

Ao.Univ.Prof. Dr. Heinrich Vierhapper heinrich.vierhapper@meduniwien.ac.at L

Ao.Univ.Prof. Dr. Ludwig Wagner ludwig.wagner@meduniwien.ac.at S

Univ. Prof. Dr. Kurt Widhalmkurt.widhalm@meduniwien.ac.at

S* currently assigned roles: S, supervisor; YS, young supervisor; L, lecturer.

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http://sabina.baumgartner-parzer@meduniwien.ac.at/http://christian.bieglmayer@akhwien.at/http://martin.bischof@meduniwien.ac.at/http://olaf.bodamer@meduniwien.ac.at/http://wilfred.druml@meduniwien.ac.at/http://manuela.foedinger@meduniwien.ac.at/http://clemens.fuernsinn@meduniwien.ac.at/http://gabriele.haeusler@meduniwien.ac.at/http://michael.hiesmayr@meduniwien.ac.at/http://alexandra.kautzky-willer@meduniwien.ac.at/http://michael.krebs@meduniwien.ac.at/http://bernhard.ludvik@meduniwien.ac.at/http://anton.luger@meduniwien.ac.at/http://wolfgang.marktl@meduniwien.ac.at/http://bruno.niederle@meduniwien.ac.at/http://peter.pietschmann@meduniwien.ac.at/http://gerhard.prager@meduniwien.ac.at/http://michael.roden@wgkk.sozvers.at/http://erich.roth@meduniwien.ac.at/http://thomas.stulnig@meduniwien.ac.at/http://walter.tschugguel@meduniwien.ac.at/http://nicole.unger-manhart@meduniwien.ac.at/http://heinrich.vierhapper@meduniwien.ac.at/http://ludwig.wagner@meduniwien.ac.at/http://kurt.widhalm@meduniwien.ac.at/http://kurt.widhalm@meduniwien.ac.at/http://ludwig.wagner@meduniwien.ac.at/http://heinrich.vierhapper@meduniwien.ac.at/http://nicole.unger-manhart@meduniwien.ac.at/http://walter.tschugguel@meduniwien.ac.at/http://thomas.stulnig@meduniwien.ac.at/http://erich.roth@meduniwien.ac.at/http://michael.roden@wgkk.sozvers.at/http://gerhard.prager@meduniwien.ac.at/http://peter.pietschmann@meduniwien.ac.at/http://bruno.niederle@meduniwien.ac.at/http://wolfgang.marktl@meduniwien.ac.at/http://anton.luger@meduniwien.ac.at/http://bernhard.ludvik@meduniwien.ac.at/http://michael.krebs@meduniwien.ac.at/http://alexandra.kautzky-willer@meduniwien.ac.at/http://michael.hiesmayr@meduniwien.ac.at/http://gabriele.haeusler@meduniwien.ac.at/http://clemens.fuernsinn@meduniwien.ac.at/http://manuela.foedinger@meduniwien.ac.at/http://wilfred.druml@meduniwien.ac.at/http://olaf.bodamer@meduniwien.ac.at/http://martin.bischof@meduniwien.ac.at/http://christian.bieglmayer@akhwien.at/http://sabina.baumgartner-parzer@meduniwien.ac.at/

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Description of thesis projects and CVs of supervisors & lecturers:

Sabina BAUMGARTNER-PARZER ......................................................................................12

Christian BIEGLMAYER ........................................................................................................ 19

Martin BISCHOF ..................................................................................................................... 21

Olaf A. BODAMER................................................................................................................. 26

Wilfred DRUML...................................................................................................................... 34

Manuela FDINGER............................................................................................................... 35

Clemens FRNSINN...............................................................................................................44

Gabriele HUSLER.................................................................................................................50

Michael J. HIESMAYR ...........................................................................................................53

Alexandra KAUTZKY-WILLER ............................................................................................57

Michael KREBS....................................................................................................................... 63

Bernhard LUDVIK................................................................................................................... 70

Anton LUGER.......................................................................................................................... 77

Wolfgang MARKTL................................................................................................................ 84

Bruno NIEDERLE ................................................................................................................... 86

Peter PIETSCHMANN .......................................................................................................... 102

Gerhard PRAGER.................................................................................................................. 111

Michael RODEN.................................................................................................................... 116

Erich ROTH ........................................................................................................................... 126

Thomas M. STULNIG ........................................................................................................... 134

Walter TSCHUGGUEL ......................................................................................................... 142

Nicole UNGER-MANHART.................................................................................................148Heinrich VIERHAPPER ........................................................................................................ 153

Ludwig WAGNER.................................................................................................................154

Kurt M. WIDHALM ..............................................................................................................161

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Sabina BAUMGARTNER-PARZERDepartment of Internal Medicine III, Clin. Div. Endocrinology and Metabolismsabina.baumgartner-parzer@meduniwien.ac.at

Diabetes associated micro- and macrovascular dysfunction. Analysis of

cellular and molecular mechanisms.

AbstractLong standing diabetes is characterized by diabetic microangiopathy (diabetic retinopathy andnephropathy) and by premature atherosclerosis. The latter represents the major cause ofmorbidity and mortality in patients with diabetes mellitus, whereas diabetic retinopathy is theleading cause for blindness in Europe.Recent data suggest that loss of retinal endothelial cells and pericytes due to apoptosis resultsin acellular capillaries and ischemia, providing the basis for the progression of diabeticretinopathy to the proliferative form of this disease. Accelerated apoptosis of endothelial cells

and vascular smooth muscle cells in atherosclerotic regions is assumed to result in plaqueerosion and plaque rupture and thus to favor atherothrombosis. It was only recently that bonemarrow derived endothelial progenitor cells (EPCs) have been found to contribute to vascularrepair and angiogenesis. In diabetic patients, however, numbers of EPCs circulating in theblood are reduced when compared to healthy control subjects. Such reduction of EPCs maycontribute to diabetes associated endothelial dysfunction and to the clinical manifestation ofatherosclerosis and cardiovascular disease. Therefore, it is of importance to evaluate thehypothesis that diabetes associated metabolic abnormalities (hyperglycemia, dyslipidemia andchronic elevation of free (non-esterified) fatty acids (FFA), elevated levels ofproinflammatory cytokines and adhesion molecules) cause depletion of EPCs in diabeticpatients.

We have previously shown that vasoprotective factors (antioxidants, leptin) prevent, whereasatherosclerotic risk factors (oxidized/glycated LDL, hyperglycemia, proinflammatorycytokines, elevated free fatty acids) trigger apoptosis in cultured vascular cells, depending onstimulus and cell type. Using inhibitors of caspases, of protein kinases and of transcriptionfactors, we could identify the respective target molecules and signal transduction pathways.Due to our extensive experience in this field of research, in future studies we want to test thehypothesis that function (apoptosis, proliferation and secretory profile) of human endothelialprogenitor cells is directly affected by diabetes associated metabolic factors. It will beevaluated, whether EPCs functional alterations can be modulated by vasoprotective agentsand the respective target molecules and signaling pathways will be characterized.

Thesis SubjectsModulation of human endothelial progenitor cell function by metabolic factors.

Techniques and infrastructureIsolation and culture of primary cultures of human vascular cells and of endothelial progenitorcells, apoptosis and proliferation assays, FACS analysis, Western and Northern blots,immunocytochemistry, transfection experiments.

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Curriculum Vitae

Sabina M. Baumgartner-Parzer Address: Department of Medicine III, Division of Endocrinology & Metabolism, Medical

University of Vienna, Waehringer Grtel 18-20, A-1090 Vienna, Austria; Phone +43 1 40400

4368; Fax +43 1 404007790; Email sabina.baumgartner-parzer@meduniwien.ac.at

Personal Data

Date of Birth: 5.11.1962

Place of Birth: Bad Ischl, Austria

Nationality Austria

Education

1985-1989 Doctoral thesis1981-1985 Study of biotechnology

1973-1981 Secondary school: Gymnasium der Kreuzschwestern

Gmunden-Orth

Career History

1998-present Associate Professor of Biochemistry at the Department of

Internal Medicine III, Div. Endocrinology & Metabolism,

Medical University of ViennaHead of the working groups of vascular biology and of

molecular genetics of hereditary endocrine diseases

11/1997 Habilitation at the University of Vienna

1990-1997 Post-Doc at the Research Laboratories of Department of

Medicine III, Division of Endocrinology & Metabolism,

Medical University of Vienna (former Division of

Endocrinology & Diabetes Mellitus, 1st Medical

Department, University of Vienna)

1993 and 1994 2 months Visiting Fellow at the Havard Medical School,

Boston

1989 Promotion (Dr. rer.nat.techn)

1985-1989 Thesis at the 1.Dept. of Medicine (Prof. Mannhalter / Prof.

Deutsch), University of Vienna

1985 Graduation (Dipl.-Ing) at the University of Bodenkultur

Career-related Activities

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2003 -present Editorial board of the journal Metabolic Syndrome and

Related Disorders

1998-2003 Assistent Editor of the journal Diabetologia

1996 Organization of the EASD Satellite Symposium:"Role of

adhesion molecules in Diabetes Mellitus"

Awards

2005 Poster-Prize - Austrian Society of

Endocrinology&Metabolism

1997 Science award of Upper Austria

1985 Dr. Karl Schleinzer-Award (University of Bodenkultur)

1984/85

Award for gifted students

Memberships

Austrian Diabetes Association (DG),

Austrian Association for Endocrinology and Metabolism (GES),

European Association for the Study of Diabetes (EASD)

Gesellschaft fr gute Labor und Analysenpraxis (GALP)

Sources of funding since 2000

Period Organization Role Title kE

2005-2006 Eurasia PacificNetwork (Grant toErdenekhuuNansalma)

Supervisor Vascular dysfunction in diabetes 10

2005-2007 FWF(Charlotte-Bhler-Program tocoworker)

Supervisor Nutritional free fatty acids anddiabetic vascular dysfunction.Analysis of cellular and

molecular mechanisms andinteractions.

80

2004-2005 Jubilumsfonds dersterr. Nationalbank

Co-investigator

Freie Fettsuren und Diabetesassoziierte Geferkrankungen

60

1997-1999 Jubilumsfonds dersterr. Nationalbank

Principalinvestigator

Bedeutung von LDL-Glykierungsprodukten bei derEntstehung von Gef-komplikationen im Rahmen desDiabetes Mellitus

20

1997-1999 FWF Principal

investigator

Hyperglykmie und Apoptose

1993-1995 Herzfeldersche Principal Einflu von Glukose auf ET-1

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Familienstiftung investigator und EDRF Produktion inkultivierten humanenEndothelzellen verschiedenerStromgebiete

Supervision of doctoral and diploma students (since 2000)

Diploma students:Andrea Lindenmayer, Kathrin Malits, Ursula Schauer, Magdalena Reithner

PhD students:

Name Title of thesis Period(expected)

Acadaemictitle

Karin Tobler Function of endothelial progenitor cells ingestational diabetes

2005-(2008)

(PhD)

MichaelaArtwohl

Heterogeneous regulation by hyperglycemic /hyperlipidemic states as well as by an adjuvans

in colon cancer therapy (levamisole) ofapoptosis, proliferation and associatedgene/protein expression in vascular endothelialcells.

1997-2000 Dr. rer.nat.techn

Teaching

- Biochemische, molekularbiologische Arbeitsmethoden in der Endokrinologie (fr

Wahlfachausbildung gem 13 Studiengesetz Medizin, fr Diplomanden und Dissertanten.

- Experimentelle Arbeiten in Endokrinologie und Stoffwechsel (fr Wahlfachausbildung

gem 13 Studiengesetz Medizin, fr Diplomanden und Dissertanten).- Molekulare Endokrinologie, gemeinsam mit H Cross (Pathophysiologie)

- Eukaryonten - Biogenese von Zellorganellen (Wahlfachvorlesung gem. mit

Prof. Gll) - Externer Lehrauftrag an der Univ. f. Bodenkultur

- Biochemische, molekularbiologische Aspekte der Endokrinologie (Dozentenvorlesung)

- Ringvorlesung - ICP (Interdiscinplinary Cooperation Project of Molecular Medicine) im

SS 1999

Publications

44 peer reviewed publications and 3 reviews in scientific journals, 8 invited lectures

Peer reviewed manuscripts since 2000 (original research and reviews)

First, last or corresponding author manuscripts:

M Artwohl, T Hlzenbein, L Wagner, A Freudenthaler, W Waldhusl, SM Baumgartner-

Parzer. Levamisole induced apoptosis in cultured vascular endothelial cells. Brit J

Pharmacol 131:1577-1583, 2000

SM Baumgartner-Parzer, E Schulze, S Pauschenwein, S Rondot, P Nowotny, W Waldhusl, H

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Vierhapper: Mutational spectrum of the steroid 21-hydroxylase gene in Austria

Identification of a novel missense mutation. J Clin Endocrinol Metabol 86:4771-4775,

2001

SM Baumgartner-Parzer, WK Waldhusl. The endothelium as a metabolic and endocrine

organ: its relation with insulin resistance. Exp Clin Endocrinol Diabetes 109 Suppl: 166-

179, 2001

SM Baumgartner-Parzer, S Pauschenwein, W Waldhusl, K Plzler, P Nowotny, H

Vierhapper. Increased prevalence of heterozygous 21-OH germ line mutations in patients

with adrenal incidentalomas. Clin Endocrinol 56, 811-816, 2002

M Artwohl, M Roden, T Hlzenbein, A Freudenthaler, W Waldhusl, SM Baumgartner-

Parzer. Modulation by leptin of proliferation and apoptosis in vascular endothelial cells.

Int J Obesity 26:577-580, 2002

SM Baumgartner-Parzer, P Nowotny, W Waldhusl, H Vierhapper. A rare duplicated 21-OHhaplotype and a de novo mutation a family analysis. J Clin Endocrinol Metabol 88:

2794-2796, 2003

M Artwohl, WF Graier, M Roden, M Bischof, A Freudenthaler, W Waldhusl, SM

Baumgartner-Parzer. Diabetic low-density lipoprotein triggers apoptosis in vasular

endothelial cells. Diabetes 52:1240-1247, 2003

M Artwohl, M Roden, W Waldhusl, A Freudenthaler, SM Baumgartner-Parzer. Free fatty

acids trigger apoptosis and inhibit cell cycle progression in human vascular endothelial

cells. FASEB J 18: 146-148, 2004H Vierhapper, C Bieglmayer, G Heinze, SM Baumgartner-Parzer. Frequency of RET-

protooncogene mutations in patients with normal and with moderately elevated (50-100

pg/ml) pentagastrin-stimulated serum concentrations of calcitonin. Thyroid 14:580-583,

2004

SM Baumgartner- Parzer, P Nowotny, W Waldhusl, H Vierhapper. Carrier frequency of

Congenital Adrenal Hyperplasia (21-OH-deficiency) in a Middle European population. J

Clin Endocrinol Metab 90: 775-778, 2004

M Artwohl, C Frnsinn, W.Waldhusl, T Hlzenbein, G Rainer, M Roden, A Freudenthaler,

SM Baumgartner-Parzer. Thiazolidinediones inhibit proliferation of micro- and

macrovascular cells. Evidence for a PPAR-independent mitochondrial mechanism.

Diabetologia, 48:586-594, 2005

M Artwohl, T Hlzenbein, C Frnsinn, A Freudenthaler, N Huttery, W. Waldhusl and SM

Baumgartner-Parzer. Thiazolidinediones inhibit apoptosis and heat shock protein 60

expression in human vascular endothelial cells. Thromb Haemost 93:810-815, 2005

SM Baumgartner-Parzer, R Lang, G Heinze, B Niederle, K Kaserer, W Waldhusl and H

Vierhapper. Polymorphisms in exon 13 and intron 14 of the RET-protooncogene: Genetic

modifiers of medullary thyroid carcinoma? J Clin Endocrinol Metab 90: 6232-6236,

2005

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H Vierhapper, L Wagner, S Hanslik, B Niederle, S Rondot, E Schulze, C Bieglmayer, K

Kaserer and S Baumgartner-Parzer. Primary hyperparathyroidism in a patient with a

seemingly homozygous Y719F RET mutation. Thyroid 15: 1303-1308, 2005

H Vierhapper, B Niederle, C Bieglmayer, K Kaserer and S Baumgartner-Parzer. Early

diagnosis and curative therapy of medullary thyroid carcinoma by routine measurement of

serum calcitonin in patients with thyroid disorders. Thyroid 15: 1267-1272, 2005

SM Baumgartner-Parzer, G Fischer, H Vierhapper. Predisposition for de novo gene

aberrations in the offspring of mothers with a duplicated CYP21A2 gene. J Clin

Endocrinol Metab 90:1164-1167, 2007

M Artwohl, K Muth, Kosulin K, R de Martin, T Hlzenbein, G Rainer, A Freudenthaler, N

Huttary, L Schmetterer, WK Waldhusl, SM Baumgartner-Parzer. R(+)-alpha-lipoic acid

inhibits endothelial apoptosis and proliferation involvement of Akt and Retinoblastoma

protein / E2F. Am J Physiol Endocrinol Metab Jun 2007 (epub ahead of print)

Co-author manuscripts:

H Frisch, T Battelino, E Schober, SM Baumgartner-Parzer, P Nowotny, H Vierhapper. Salt

wasting in simple virilizing congenital adrenal hyperplasia. J Pediatr Endocrinol Metab

14:1649-1655, 2001

AP Szremska, R Stoxreither, L Kenner, M Artwohl, HC Theussl, SM Baumgartner-Parzer, E.

Passegue, EF Wagner, V. Sexl. Jun B inhibits proliferation and transformation in B

lymphoid cells. Blood 102:4159-4165, 2003W Gartner, T Daneva, I Mineva, SM Baumgartner-Parzer, H Vierhapper, M Weissel, B

Niederle, L Wagner. Identification of a novel SNP within intron 19 of the RET gene by

comparative RFLP analysis of benign and neoplastic endocrine tissue. ncbi.nlm.nih

GenBank Accession AY615726; 2004

W Gartner, T Daneva, I Mineva, S Baumgartner-Parzer, B Niederle, H Vierhapper, M

Weissel, L Wagner. A new identified RET proto-oncogene polymorphism is found in a

high number of endocrine tumor patients. Human Genetics 117:143-153, 2005

D Stoiber, B Kovacic, C Schuster, C Schellack, M Karaghiosoff, R Kreibich, E Weisz,

Artwohl M, OC Kleine, M Mller, S Baumgartner-Parzer, J Ghysdael, M Freissmuth, V

Sexl. Tyk2 is a key regulator for the tumor surveillance of B lymphoid tumors. JCI 114

(11):1650-1658, 2004

F Votava, D Trk, J Kovacs, D Mslinger, SM Baumgartner-Parzer, et al. Estimation of the

false negative rate in the newborn screening for congenital adrenal hyperplasia. Eur J

Endocrinol 152:869-874, 2005

V Dolzan, J Solyom, G Fekete, J Kovacs, V Rakosnikova, F Votava, J Lebl, Z Pribilincova, S

Baumgartner-Parzer, S Riedl, F Waldhauser, H Frisch, M Stopar-Obreza, C Krzisnik, T

Battelino. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype

association in Middle European patients with congenital adrenal hyperplasia. Eur J

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Endocrinol 153:99-106, 2005

K Namiranian, F Mittermayer, M Artwohl, J Pleiner, G Schaller, BX Mayer, M Bayerle-Eder,

M Roden, SM Baumgartner-Parzer, M Wolzt. Free fatty acids do not acutely increase

asymmetrical dimmethylarginine concentrations. Horm Metabol Res 37: 768-772

DG Haider, F Mittermayer, G Schaller, M Artwohl, SM Baumgartner-Parzer, G Prager, M

Roden, M Wolzt. Free fatty acids normalize a rosiglitazone-induced vasfatin release. Am

J Physiol Endocrinol Metab 291:E885-890, 2006

Invited Talks:

Hyperglycemia and endothelial cells. XIII. International Donausymposium on Diabetes

mellitus. Vienna 5.-7.10.1995

Apoptose - der programmierte Zelltod. sterr. Biochemische Ges, Biochemisches Institut,

Universitt Graz, 29.6.1996Role and mechanisms of apoptosis in endothelial cells: Zellkultur-Workshop - European

Tissue Culture Society, Wien 21/02/1997

Effect of tri-iodothyronine on cultured endothelial cells. The Vascular System in Thyroid

Disease. Heidelberg 6.10.1999

Hyperglycemia and endothelial dysfunktion. Donau-Symposium, Zrich 16.10.1999

Molekulargenetische Diagnostik des AGS. Jahrestagung der sterr. Gesellschaft fr

Endokrinologie und Stoffwechsel. St. Wolfgang, 19.-21. April 2001

Molekularbiologische Diagnostik bei Nebennierentumoren. Jahrestagung der sterr.Gesellschaft fr Endokrinologie und Stoffwechsel. St. Wolfgang, 25.-27.April 2002

Mechanismen des endothelialen Re-Modeling durch metabolische Faktoren. Potsdamer

Expertengesprche Diabetes. Berlin 26.02.2005

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Christian BIEGLMAYERClinical Institute for Medical and Chemical Laboratory Diagnosticschristian.bieglmayer@akhwien.at

Curriculum Vitae

Personal data: Born 09/15/1947, living in Vienna, married, one son.

Education:1965-1974: Study of chemistry at the University of Vienna. Thesis: Function of theglyoxysomal membrane in the metabolism of growing fat storing plants", PhD graduation andbasic military service.

Profession:1972-1974: Half-day employee at the Institute of General Biochemistry, afterwards full-timeuniversity assistant.1976-1981: Hormone-Laboratory of the 1st Dept. Obstetrics and Gynaecology (GeneralHospital of Vienna).1981-1991: Entrusted with the organisation and direction of the Endocrine Laboratory of the2nd Dept. Obstetrics and Gynaecology.1987 "Venia docendi for Biochemistry". 1988 assistant professor and since 1990 tit.a.o. Univ.Prof.1991 till now: manager of the domain Endocrinology at the Clinical Institute for Medicaland Chemical Laboratory Diagnostics (KIMCL)

Consultantof WHO in Pyongyang, North-Korea in 1988. QUASTA ring-trial leader forquality assurance of Fertility Hormones.

Award:"Theodor Krner Award" for "Secretion of gonadotropins by pituitary cell culture" in1978.

Membership:Austrian Biochemical Society (member of the board from 1986 to 1988),Austrian Society for Clinical Chemistry, Austrian Society for Endocrinology and Metabolism(founder-member and member of the board since 1995) and New York Academy of Science.

Grants:"Fonds zur Frderung der wissenschaftlichen Forschung" (1989: "Eicosanoids in

menstrual blood"), "Brgermeisterfonds der Bundeshauptstadt Wien" (1991: "Influence ofcytotoxic drugs on tumor - mucin synthesis" and 1997: "Effects of 5-reductase inhibitors onandrogen metabolism in skin cells").

Scientific work:About 250 articles in scientific periodicals and books: carbohydratemetabolism in plants, steroid hormone receptors, autoimmune-reactions in pre-eclampsia,clinical and experimental endocrinology and oncology, bone marker.

Lectures:Fertility Hormones, Bone metabolism, Hormones of the adrenal gland,Hormones, function tests and tumor markers in gynecology. Modern methods of hormoneanalysis, Interpretation of hormone reports. Outside lectures: Principles of radiation

protection and work with radioisotopes in medical laboratories, Biotechnology in diagnosticlaboratories.

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Guidance of 35 students during their diploma work or thesis and final examinations. Guidanceof MDs during their special training in laboratory medicine.

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Curriculum Vitae

Martin BISCHOF, MDDivision of Endocrinology & Metabolism, Department of Internal Medicine III, Medical

University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria; Phone +43 1

40400 7257 Fax +43 1 40400 7257 email martin.bischof@meduniwien.ac.at

Personal Data

Date of Birth: 01.04.1969

Place of Birth: Vienna, Austria

Nationality Austria

Education2003 Certification Internal Medicine

1987 1996 studies of Human Medicine

1979 1987 secondary school

Career History

2005-present Clinical responsibility for the Metabolic Research Unit

2004 present

Associate Professor of Medicine at the Medical University

of ViennaAttending Physician at the Div. of Endocrinology &

Metabolism

2004 venia docendi for Internal Medicine

1998 2004

Clinical training and lecturer at the Division of

Endocrinology & Metabolism, Medical University of

Vienna

1996-1998 Postdoctoral fellow

Department of General and Experimental Pathology,

University of Vienna Medical School

1996 Fellowship Brown University, Rhode Island, USA

1992-1995 Scientific coworker of the group Tumorpathology

Department of General and Experimental Pathology,

University of Vienna Medical School

Career-related Activities

2005-present Management Training for Medical Leaders at the

University of Krems

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Awards

2002 Aventis-Preis, University of Vienna Medical Faculty

1996 Legacy Hirtl-Buss, University of Vienna Medical Faculty

(research grant)

Memberships

Austrian Diabetes Society

European Society for the Study of Diabetes

Austrian Society for Endocrinology and Metabolism

Austrian Society for Internal Medicine

Sources of funding (since 2000)

Period

Organization

Short Title

K/yr

2005

2007

FWF (F17980-B11) Brain metabolism during hypoglycemia in

type 1 DM

70

2004

2006

Austrian National

Bank Project #10892

Glucose metabolism in GSD 1 26

Supervision of doctoral students (since 2000)

Name Title of thesis Period (expected) Acad.Title

Martina Mandl Measurement of unidirectional

fluxes to ATP in human occipital

lobe using 31PMR saturation

transfer

2005 2008 PhD

Publications27 peer reviewed publications in scientific journals

Peer reviewed manuscripts since 2000 (original research and reviews)

First, last or corresponding author manuscripts:

Bischof-M, Ludwig-C, Hofer-A, Kletter-K, Krebs-M, Stingl-H, Nowotny-P, Waldhusl-W,Roden-M. Hormonal and Metabolic Counterregulation During and After High-Dose Insulin-Induced Hypoglycemia in Diabetes Mellitus Type 2. Hormone and Metabolic Research (2000)32:417-423

Bischof-MG, Bernroider-E, Ludwig-C, Kurzemann-S, Kletter-K, Waldhusl-W, Roden-M.Effect of Near Physiologic Insulin Therapy on Hypoglycemia Counterregulation in Type 1

Diabetes. Hormone Research (2001) 56:151-158.Bischof-MG, Krssak-M, Krebs-M, Bernroider-E, Stingl-H, Waldhusl-W, Roden-M. Effects

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of Short-Term Improvement of Insulin Treatment and Glycemia on Hepatic GlycogenMetabolism in Type 1 Diabetes Mellitus. Diabetes (2001) 50: 392-398

Bischof-MG, Bernroider-E, Krssak-M, Krebs-M, Stingl-H, Nowotny-P, Yu-C, Shulman-GI,Waldhusl-W, Roden-M. Hepatic Glycogen Metabolism in Type 1 Diabetes After Long-TermNear Normoglycemia. Diabetes (2002) 51: 49-54

Bischof-MG, Mlynarik-V, Brehm-A, Bernroider E, Krssak-M, Bauer-E, Madl-C, WaldhuslW, Roden-M. Brain Energy Metabolism During Hypoglycemia in Healthy and Type 1Diabetic Humans. Diabetologia (2004) 47: 648-651

Bischof-MG, Brehm-A, Bernroider-E, Krssak-M, Mlynarik-V, Krebs-M, Roden-M. Cerebralglutamate metabolism during hypoglycemia in healthy and type 1 diabetic humans. EuropeanJournal of Clinical Investigation (2006) 36:164-169

Bischof-MG, Heize-G, Vierhapper-H. Vitamin D Status in a Healthy Population and itsRelation to Age and BMI. Hormone Research (2006) 66: 211-215

Gessl-A, Bischof-M. Thyroid disorders and the Kidney. Nephro-News (2006) 8: 1-12

Co-author manuscripts:

Krebs-M, Stingl-H, Nowotny-P, Weghuber-D, Bischof-M, Waldhusl-W, Roden-M.Prevention of in Vitro Lipolysis by Tetrahydrolipstatin. Clinical Chemistry (2000) 46: 950-954

Raber-W, Raffesberg-W, Bischof-M, Scheuba-C, Niederle-B, Gasic-S, Waldhusl-W, Roden-M. Diagnostic Efficacy of Unconjugated Plasma Metanephrines for the Detection ofPheochromocytoma. Archives of Internal Medicine (2000) 160: 2957-2963

Cross-HS, Bareis-P, Hofer-H, Bischof-MG, Bajna-E, Kriwanek-S, Bonner-E, Peterlik-M. 25-

Hydroxyvitamin D3-1-Hydroxylase and Vitamin D Receptor Gene Expression in HumanColonic Mucosa is Elevated During Early Cancerogenesis. Steroids (2001) 66:287-292

Bareis-P, Bises-G, Bischof-MG, Cross-HS, Peterlik-M. 25-Hydroxy-Vitamin D Metabolismin Human Colon Cancer Cells During Tumor Progression. Biochemical Biophysical ResearchCommunications (2001) 285: 1012-1017

Stingl-H, Krssak-M, Krebs-M, Bischof-MG, Nowotny-P, Frnsinn-C, Shulman-GI,Waldhusl-W, Roden-M. Lipid-Dependent Control of Hepatic Glycogen Stores in HealthyMan. Diabetologia (2001) 44: 48-54

Krebs-M, Krssak-M, Nowotny-P, Weghuber-D, Gruber-S, Mlynarik-V, Bischof-M, Stingl-H,

Frnsinn-C, Waldhusl-W, Roden-M. Free Fatty Acids Inhibit the Glucose-StimulatedIncrease of Intramuscular Glucose-6-Phosphate Concentration in Humans. Journal ofClinincal Endocrinology and Metabolism (2001) 86: 2153-2160

Bayerle-Eder-M, Fuchsjager-Mayrl-G, Sieder-A, Polska-E, Roden-M, Stulnig-T, Bischof-MG, Waldhusl-W, Schmetterer-L, Wolzt-M. Effect of Pravastatin on Responsiveness to N-monomethyl-L-Arginine in Patients With Hypercholesterolaemia. Atherosclerosis (2002) 160:177-184

Bareis-P, Kallay-E, Bischof-MG, Bises-G, Hofer-H, Ptzi-C, Manhardt-T, Bland-R, Cross-HS. Clonal Differences in Expression of 25-Hydroxyvitamin D3-1-hydroxylase, of 25-Hydroxyvitamin D3-24-hydroxylase, and of the Vitamin D Receptor in Human Colon

Carcinoma Cells: Effects of Epidermal Growth Factor and 1,25-Dihydroxyvitamin D3.Experimental Cell Research (2002) 276:320-327

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Stingl-H, Schnedl-WJ, Krssak-M, Bernroider-E, Bischof-MG, Lahousen-T, Pacini-G, Roden-M. Reduction of Hepatic Glycogen Synthesis and Breakdown in Patients with Agenesis of theDorsal Pancreas. Journal of Clinincal Endocrinology and Metabolism (2002) 87: 4678-4685

Anderwald-C, Bernroider-E, Krssak-M, Stingl-H, Brehm-A, Bischof-MG, Nowotny-P,Roden-M, Waldhusl-W. Effects of Insulin Treatment in Type 2 Diabetec Patients onIntracellular Lipid Content in Liver and Skeletal Muscle. Diabetes (2002) 51: 3025-3032

Artwohl-M, Graier-W, Roden-M, Bischof-M, Freudenthaler-A, Waldhusl-W, Baumgartner-Parzer-S. Diabetic Low-densitiy Lipoprotein Triggers Apoptosis in Vascular EndothelialCells. Diabetes (2003) 52:1240-1247

Cauza-E, Hanusch-Enserer U, Bischof M, Spak-M, Kostner-K, Dunky-A, Ferenci-P.Increased C282Y Heterozygosity in Gestational Diabetes. Fetal Diagnosis and Therapy (2005)20:349-354

Weghuber-D, Roden-M, Franz-C, Chmelik-M, Torabia-S, Nowotny-P, Gruber-S, Waldhusl-W, Klingler-A, Bischof-M, Widhalm-K. Insulin resistance, but not obesity determines fatty

liver in obese children. Submitted for publication.Zauner-A, Nimmerrichter-P, Anderwald-C, Bischof-M, Schiefermeier-M, Ratheiser-K,Schneeweiss-B, Zauner-C. Severity of insulin resistance in critically ill medical patients.Submitted for publication.

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Olaf A. BODAMERDept. General Paediatricsolaf.bodamer@meduniwien.ac.at

Mechanisms of prematurity - the potential role of genetic and metabolic

factors

AbstractPreterm delivery is the worldwide leading cause of infant mortality and morbidity. In theUnited States of America between 7 and 8% of live born newborn infants have a birth weightof 2500 g. About 20% of these weigh 1500 g or less and are mostly born prematurely. Thecauses for premature birth and intrauterine growth retardation are closely related and aremultifactorial in origin; many social, environmental, medical and genetic factors have beensuggested. Genetic factors from both mother and fetus probably play a role in determininggestational length and could confer a possible genetic predisposition towards preterm birth.

Since infections seem to be most prevalent among the identifiable causes of preterm birth, it isconceivable that genetic factors that predispose to infections may play an important role. Acandidate genetic study focusing on genes that encode cytokines, mediators of apoptosis andhost defense found associations with allelic variants in the genes for interleukin 4 and 10 (IL4,IL10), the tumor necrosis factor alpha (TNF), and the mannose-binding lectin gene (MBL2).The possible genetic context between infection, inflammation and preterm delivery is alsosupported by other findings, in particular for IL4 and TNF. In addition, genetic and dietaryfactors conferring metabolic perturbations, such as low cholesterol during early pregnancyhave been associated with adverse outcome including prematurity.The objectives of our research are twofold: First to identify novel genetic and metabolicfactors that are associated with prematurity and, secondly, to identify and test appropriate

mouse models of prematurity with respect to novel therapeutic approaches.

Thesis Subjects)Arginine:glycine amidinotransferase (AGAT) knock-out mice - a model for prematurity andperinatal asphyxia?The role of genetic factors for the pathophysiology of prematurity - prospective multi-center,multi-national study.

Techniques and infrastructure

Mouse model of AGAT deficiency; phenotypic characterization of mice; primary tissuecultures; enzymatic analysis; molecular analyses (PCR, dHPLC, sequencing); chip arrays; allrequired equipment available.

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Curriculum Vitae

Olaf BODAMERDivision of Biochemical and Paediatric Genetics, Department of General Paediatrics, Medical

University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria Phone +43 1 40400

3210; Fax +43 1 4063484; Email olaf.bodamer@meduniwien.ac.at

Personal Data

Date of Birth: 25.03.1963

Place of Birth: Stuttgart, Germany

Nationality Germany

Education2005 Specialist in Human Genetics (Medizinische Biologie)

2001 present Specialist in Inborn Errors of Metabolism

1999 Specialist in Paediatrics

1999 American Board Certification in Medical Genetics

1997-1999 Fellowship Medical Genetics, Baylor College of Medicine,

Houston, USA

1997 Educational Commission for Foreign Medical Graduates

(ECFMG) test passed 1994 - 1997 PhD Studies at the University College London, UK

1989 1992 Doctoral thesis MD at the University Medical School

Heidelberg and Saarland

1982 1989 Studies of Human Medicine at the University of

Heidelberg, Germany

1974 1982 secondary school in Stuttgart, Germany

Career History

2004 present Director of the Austrian National Screening Program

2004 present Director of Biochemical and Paediatric Genetics at the

Department of General Paediatrics, Medical University of

Vienna.

2002 present Associate Professor at the Department of General

Paediatrics, Medical University of Vienna. Consultant at

the Childrens Hospital Mdling and Prayer Childrens

Hospital Vienna

2002 venia docendi for Paediatrics

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2001-present Elected Fellow of the American College of Medical

Genetics

1999-2001 Assistant Professor at the Department of Human and

Molecular Genetics, Baylor College of Medicine, Houston,

USA

1997 1999 Fellow at the Department of Human and Molecular Genetics,

Baylor College of Medicine, Houston, USA

1994 1999 Senior Research Associate at the Institute of Child Health,

London, UK

1992 1993 University Assistant at the Division of Paediatric Oncology

and Haematology, Univ.-Childrens Hospital Erlangen,

Germany

1989 1992 Doctoral thesis at the University Medical School Heidelberg andSaarland

1989 1992 Assistant Childrens Hospital Ludwigshafen, Germany and

different private practices

Career-related Activities

2001 present Director of quality management at the Division of Biochemical

and Paediatric Genetics, Medical University Vienna

2003 present Director of the interdisciplinary working group at theUniversity Childrens Hospital Vienna

2003 present Director of the National Metabolic Registry

Awards

2005 Wissenschaftspreis sterreichische Gesellschaft fr

Kinder- und Jugendheilkunde

2001 Travel award Society of Inbron Errors of Metabolism USA

1988 Stipend of the DAAD (Deutscher Akademischer

Auslandsdienst)

Memberships

Deutsche Gesellschaft fr Kinderheilkunde

Society for the Study of Inborn Errors of Metabolism

British Inherited Metabolic Group, England

American Society of Human Genetics

American College of Medical Genetics

sterreichische Gesellschaft fr Humangenetik

International Society for Neonatal Screening

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Sources of funding (since 2000)

Period Organization Short Title K/yr

2007

2009

Navi Mumbai Institue

of Research in Mental

and Neurological

Handicap

Incidence of Inborn Errors of Metabolism in

India

7,5

2007

2009

Ministry of Science Diagnostic strategies for the molecular diagnosis

of Lysosomal storage disorders

67

2006

2010

Ministry of Health Neonatal Screening for Lysosomal storage

disorders

207

2006

2007

Cytonet Hepatocytes and ureacycle function 16

2006 - 2007 Milupa Threonine Metabolism in individuals with

phenylketonuria

18

2004 - 2009 Genzyme Morbus Fabry, Development of a novel method

for neonatal screening for lysosomal

42

2004 - 2008 SHS GmbH Development of analytical techniques 46

2002

2004

Austrian National

Bank (#9572)

Neonatal screening for disorders of steroid

genesis

63

Supervision of doctoral students (since 2000)

Name Title of thesis Period (expected) Acad.

Title

Karin Tuschl therapeutic effects of oral

Tetrahydrobiopterin in patients with

classical phenylketonuria-a stable

isotope study

2001 - 2004 MD

Rene

Ratschmann

Haploid Protein Expression Test 2001 - 2004 MD

Yvonne

Sommer

Homocysteine and Methionine

Metabolism using stable isotopes

2004 - 2007 MD

Karin Tuschl Stipend Metabolicum ( 15.000) 2004

Denise

Rauter

Maternal PKU 2002 - 2003 Mag.

Manuela

Hiess

Epigenetics and Methylation 2004 2006 MD

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Dimitri

Saliabis

Tandem MS Screening 2005 - 2007 MD

Julia

Vodopiutz

CDGIK a novel disorder of

glykosylation

2005 - PhD

Furhan Iqbal AGAT Mousemodel 2006 - PhD

Ana Ki Genetics of prematurity 2007 - PhD

Publications61 and 10 peer reviewed publications and reviews, resp., in scientific journals,53 invited lectures,

Peer reviewed manuscripts since 2000 (original research and reviews)First, last or corresponding author manuscripts:

Y. Estrov, F. Scaglia, O.A.F. Bodamer. Psychiatric symptoms in inborn errors of metabolism.J Inher Met Dis 2000; 23:2-6. (Review)

O.A.F. Bodamer, A.Vellodi. Protein, glucose and energy metabolism in Gaucher disease typeI. J Inher Met Dis 2000; 23:86-87.

F. Feillet, O.A.F. Bodamer, S. Sequeira, M. Dixon, J.V.Leonard. Resting energy expenditurein disorders of propionate metabolism. J. Ped 2000; 136:659-663.

O.A.F. Bodamer, D.Halliday, J.V. Leonard. The effects of L-alanine supplementation in late-onset glycogen storage disease type II. Neurology 2000; 55:710-712.

O.A.F Bodamer, D. Halliday. Uses of stable isotopes in clinical diagnosis and research in thepediatric population. Arch Dis Child 2001; 84:444-448. (Review)

O.A.F. Bodamer, D.S. Rosenblatt, S.H. Appel, A.L. Beaudet. Late-onset combinedhomocystinuria and methylmalonic aciduria (cblC). Neurology 2001; 56:1113.

O.A.F. Bodamer, E.J. Popek, C.A. Bacino. Atypical presentation of amniotic band syndrome.Am J Med Gen 2001; 100:100-102.

O.A.F. Bodamer, R.M. Bravermann, W.J. Craigen. Diagnosis of autosomal recessiveosteopetrosis: presence of fractures in a 3-month old female. J Paed Child Health2001; 37:520-522.

O.A.F. Bodamer, S.M. Bloesch, A. Gregg, S. Stckler-Ipsiroglu, W.E. OBrien. Analysis ofguanidinoacetate and creatine by isotope dilution electrospray tandem mass-spectrometry.Clin Chim Acta 2001; 308:173-178.

O.A.F. Bodamer, E. Wraith, CR Scott, F. Scaglia. A New Variant Type III (Type IIID)Gaucher Disease Characterized by Dysmorphic Features, Absence of CardiovascularInvolvement, and Compound Heterozygosity for a Novel Mutation (D409H/C16S) Am JMed Genet 2002; 109:328-31.

D.L. Smith, O.A.F. Bodamer. Practical management of combined MMA / homocystinuria(cblC). J Child Neurol. 2002; 17:353-6. (Review)

O.A.F. Bodamer, D. Mslinger, A. Mhl und S. Stckler-Ipsiroglu. Neugeborenen-screeningin sterreich: Bestandsaufnahme, Neuentwicklungen und Zukunftsperspektiven. PdiatPrax 2002; 61:539-549.

O.A.F. Bodamer, D. Haas, M.M.P. Hermans, A.J.J. Reuser, J.V. Leonard, G.F. Hoffmann.Long-term management of childhood/non-classical infantile Glycogen Storage DiseaseType II (GSD-II) with oral L-alanine supplementation. Ped Neurol 2002; 27:145-147.

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O.A.F. Bodamer,F. Feillet, R.E. Lane, P.J. Lee, M.A. Dixon, D. Halliday, J.V. Leonard.Utilisation of cornstarch in glycogen storage disease type Ia. Europ J GastroenterolHepatol 2002; 14:1251-1256.

O.A.F. Bodamer, D. Bercovich, M. Schlabach, C. Ballantyne, D. Zoch, A.L. Beaudet. Use ofDenaturing HPLC to provide efficient detection of mutations causing familial

hypercholesterolemia. Clin Chem 2002; 48:1913-1918.K. Hussein*, O.A.F. Bodamer*, F.J. Cameron, C. Camacho-Hubner, M.A. Soos, J. Jones, F.Taylor, S. ORahilly, A. Aynsley-Green. A new syndrome of hemihypertrophy and severenon-ketotic hypoglycaemia without hyperinsulinism in childhood. Hormone Research2004; 61:222-227. *joint first author

O.A.F. Bodamer, R. Ratschmann, E. Paschke, T. Voigtlnder, S. Stckler-IpsirogluRecurrent acroparesthesia during febrile infections in a 9 year-old male. Lancet2004; 363:1698.

O.A.F. Bodamer,S. Gruber, S. Stckler-Ipsiroglu. Nuclear magnetic resonance spectroscopyin GCDHdeficiency. JIMD 2004; 27:877-883.

K. Tuschl, O.A.F. Bodamer, W. Erwa, A.Mhl. Novel Method for Rapid Analysis of Total

Plasma Homocysteine by Tandem Mass Spectrometry. Clin Chim Acta 2005; 351:139-41.K. Tuschl, A. Gal, E. Paschke, S. Kircher, S., O.A.F. Bodamer. Mucopolysaccharidosis type

II in females case report and review of literature. Ped Neurol 2005; 32:270-272.M. Holub, L. Potocki, O.A.F. Bodamer.Oral-Facial-Digital Syndrome Type 1: Review of

Cerebral Malformations. Am J Med Genet 2005; 136:218? (Review).O.A.F. Bodamer, A. Mhl. Analysis of acylcarnitine ester for the diagnosis of inborn errors of

metabolism using tandem mass-spectrometry. Chem Month 2005; 136:1293-1297.O.A.F. Bodamer. Genetische Polymorphismen und Prdisposition. Pdiatrie Pdiologie 2005;

1:27-31. (Review).O.A.F. Bodamer, T Sahoo, A Beaudet, W OBrien, L Sweetman, T Bottiglieri, C Wagner, F

Scaglia. Evidence for impaired creatine synthesis in patients with combinedmethylmalonic aciduria and homocystinuria (cblC) new pathomechanism and rationalefor treatment of disorders of remethylation? Annals of Neurol 2005; 57:557-560.

R. Ratschmann, O.A.F. Bodamer.Genetische Polymorphismen und Prdisposition. Pd. Prax2005; 66:659-664. (Review).

CB. Item, S. Stckler-Ipsiroglu, C. Willheim, A. Mhl, O.A.F. Bodamer.Use of DenaturingHPLC to provide efficient detection of mutations causing guanidinoacetatemethyltransferase deficiency. Mol Genet Metab 2005; 86:328-334.

O.A.F. Bodamer, M. Beck, M. Weigl.MPS-I. Iatros Pdiatrie 2005. (Review)O.A.F. Bodamer, K Hussein, AA Morris, C-D Langhans, D Rating, E Mayatepek, JV

Leonard. Glucose and leucine kinetics in children with idiopathic ketotic hypoinsulinaemic

hypoglycaemia. Arch Dis Child 2006;91:483-6O.A.F. Bodamer, W. Maurer, G. Mitterer, M.W. Mueller, A. Pollak, W.M. Schmidt.Mannose-binding lectin (MBL2) polymorphisms and the risk of preterm birth. Genetics inMedicine 2006;8:518-524

M. Holub, K. Tuschl, R. Ratschmann, K. Strnadova, W. Sperl, A. Mhl, G. Heinze, O.A.F.Bodamer. Influence of hematokrit and localisation of punch in dried blood spots on levelsof amino acids and acylcarnitines measured by tandem mass spectrometry. Clin Chim Acta2006;373:27-31

K. Strnadova, M. Holub, A. Mhl, K. Tuschl, F. Waldhauser, O.A.F. Bodamer. Long-termstability of amino acids and acylcarnitines in dried blood spots used for neonatal screeningby tandem mass spectrometry. Clin Chem 2007;53:717-722

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O. A. Bodamer, O. Haas, K. Schmitt, E. Panzer-Grunmeyer. Lack of leukemia-and cloneSpecific markers at birth in children with T cell precursor ALL suggests a predominantlypostnatal origin. Blood 2007 Jun 8; (print)

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Wilfred DRUMLClinical Division of Nephrology and Dialysis, Department of Internal Medicine IIIwilfred.druml@meduniwien.ac.at

Curriculum Vitae

Name: Prof. Dr. med. Wilfred Johannes DRUMLmarried with Mrs. Dr. jur. Christiane Druml3 children (Hephzibah 22, Zino 20, Carl 16)

Home address: Gottfried Keller-Gasse 13, A-1030 Vienna, Austria31. 7. 1949 born in Mauthen/ Carinthia, Austria

1969 - 1972 Medical training (preclinical part) in Innsbruck, Austria1972 - 1975 Medical training (clinical part) Vienna, Austria

1975 Graduation; MD1975 - 1991 Residence/ fellow in medicine, Department of Internal Medicine I,University of Vienna, Austria

1982 Borad certification Internal Medicine1985 - 1987 Postdoctoral research fellow Harvard University, Boston, USA1986 US-certification (ECFMG)1986 - 1987 Medical Fellow, Harvard University

(Brigham and Womens Hospital) Boston1987 Board Certification in Austria : Nephrology1987 Associate Professor of Medicine1991 Professor of Medicine, Tenure

since 1991 Director, Nephrology Intensiv Care ProgrammeVienna General Hospital, Vienna, Austria

1995 Board certification: Intensive Care Medicine

Research Focus: Metabolism and nutrition in the critically ill, in patients with renal failure,development of the first dipeptide-containing amino acid solution worldwide and of manynutritional programs, intravenous lipids, acute renal failure, continuous renal replacementtherapies, general infusion therapy.Society (Founding) Member /Officer : Austrian Society of Clinical Nutrition(AKE)(president, responsible for publication of nutritional recomendations), AustrianSociety of Medical Intensive Care Medicine (president, responsible for consensus reports)European, Society of Parenteral and Enteral Nutrition, European Society of Intensive CareMedicineCongress Organization: Numerous national and international seminars and workshops inthe field of intensive care medicine, clinical nutrition, of acute renal failureEditor, Editorial Board: Editor-in-Chief of Wiener klinische Wochenschrift (The Middle

European Journal of Medicine),founder and editor-in-chief of an intensive care newsletter (INTENSIV-News), editorialboard of several national and international journalsManuscript Reviewer:Regular reviewer for the major journals in the fields of clinicalnutrition, of nephrology and intensive care medicine.

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Manuela FDINGERClinical Institute of Medical and Chemical Laboratory Diagnosticsmanuela.foedinger@meduniwien.ac.at

Effect of iron therapy on cellular iron homeostasis - safety of iron therapy?

AbstractMost patients with chronic renal failure must receive erythropoietic agents and iron tomaintain a hemoglobin level above 11 g/dL. Intravenous iron is more effective than oral ironsubstitution. Intravenously iron is mainly supplied as iron sucrose and iron gluconate.However, non-transferrin bound labile iron can produce side effects possibly by affectingendothelial cells, polymorphonuclear leukocytes and cytokines. Moreover, labile iron may actas a catalytic agent in the formation of hydroxyl radicals, and could hence contribute to celldamage. Therefore, iron must be carefully administered intravenously, particularly whensupplied in high doses.Data in the literature suggest that iron is an important factor in the process of atherosclerosis,but exact mechanisms are still unknown. The iron hypothesis suggests that iron depletionprotects against ischemic heart disease. Furthermore, iron promotes bacterial growth and thusis potentially related to infectious complications.End-stage renal disease patients require iron therapy to benefit from treatment withrecombinant human erythropoietin or novel erythropoiesis stimulating proteins. Monitoring ofiron status in these patients includes the determination of the percentage of hypochromic redblood cells and/or the reticulocyte hemoglobin content, in addition to ferritin serumconcentration and transferrin saturation.Concerning safe and optimal correction of renal anemia by intravenous iron therapy theprincipal questions are to be answered are the following: Does intravenous iron application

indeed contribute to 1) atherogenesis, 2) infectious disease, and 3) cell damage?A first step to clarify these issues is to identify genes that are responsive to intravenous irontherapy (i.e. up- or down-regulated genes). This is to be accomplished by using geneexpression microarrays in cells isolated from chronic renal failure patients that have receivedintravenous iron or not. Identification of genes regulated by iron therapy will provide basicinformation to support or reject the hypothesis of an involvement of iron in atherogenesis,infections, and cell damage.

Thesis SubjectsEffects of intravenous iron therapy on gene expression in human cells

Molecular effects of intravenous iron therapy on oxidative stress in human cells

Techniques and infrastructureCell culture, isolation of RNA, microarray analysis; quantitative real-time PCR; all requiredequipment available.

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Curriculum Vitae

Manuela FDINGERClinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of

Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria; Phone +43 1 40400 5388; Fax

+43 1 40400 6752; Email manuela.foedinger@meduniwien.ac.at

Personal Data

Date of Birth: 09.02.1964

Place of Birth: Steyr, Austria

Nationality Austria

Education1997 present specialist in Laboratory Medicine

1990 International Diploma of Tropical Medicine

1982 1990 studies of Human Medicine

1974 1982 secondary school

Career History

2004 present Head of the section Molecular Endocrinology,

Pharmacology & Metabolism and medical head of thedivision Endocrinology at the Clinical Institute of

Medical and Chemical Laboratory Diagnostics

2000 present associate Professor at the Clinical Institute of Medical and

Chemical Laboratory Diagnostics, Medical University of

Vienna

2000 venia docendi for Laboratory Medicine

1992 - present University Assistant, Clinical Institute of Medical and

Chemical Laboratory Diagnostics, Medical University of

Vienna

1991 - 1992 Research fellow at the Institute of General and

Experimental Pathology and the Institute of Specific

Prophylaxis and Tropical Medicine at the (Medical)

University of Vienna

Career-related Activities

2001 2002 Postgraduate University Course for Medical Leaders at the

University of Salzburg

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2004 Section leader "Science and Development", Austrian

Society for Clinical Chemistry

Awards

2001 ERA-EDTA Award of the European Dialysis and

Transplantation Association

1999 Preis der sterreichischen Gesellschaft fr Nephrologie

Award der National Kidney Foundation

1998 Young Investigator Award of the American Society of

Transplant Physicians

Best Scientific Abstract of the International Society of

Peritoneal Dialysis

1996 Preis der sterreichischen Gesellschaft fr Labormedizin

Memberships

Austrian Society for Endocrinology and Metabolism

Austrian Society for Laboratory Medicine and Clinical Chemistry

Austrian Society for Good Analyses and Laboratory Praxis

Society for Nephrology

Sources of funding (since 2000)

Period Organization Short Title K/yr1998

2001

Else-Krner-

Fresenius-Stiftung,

Germany

Effect of homocysteine on vascular

endothelial cells

17.9

Supervision of doctoral students (since 2000)

Name Title of thesis Period (expected) Acad.Title

Anita Jallitsch Molecular background of

Anderson-Fabry disease

2007 (2009) (Dr. scient.

med.)

Publications78 and 13 peer reviewed publications and reviews, resp., in scientific journals,2 editorials, 3 book contributions

Peer reviewed manuscripts since 2000 (original research and reviews)

First, last or corresponding author manuscripts:

Sunder-Plassmann G, Winkelmayer WC, Fdinger M. 2006. Genetic aspects of

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hyperhomocysteinemia in chronic kidney disease. Semin Nephrol. 26:8-13. (review)

Winkelmayer WC, Kramar R, Sunder-Plassmann G, Fdinger M. 2005. Effects of single-nucleotide polymorphisms in MTHFR and MTRR on mortality and allograft loss in kidneytransplant recipients. Kidney Int. 68:2857-62.

Winkelmayer WC, Huber A, Wagner OF, Hrl WH, Sunder-Plassmann G, Fdinger M. 2005.Associations between MTHFR 1793G>A and plasma total homocysteine, folate, and vitaminB in kidney transplant recipients. Kidney Int. 67:1980-5.

Lorenz M, Kletzmayr J, Huber A, Hrl WH, Sunder-Plassmann G, Fdinger M. 2005.Ironoverload in kidney transplants: prospective analysis of biochemical and genetic markers.Kidney Int. 67:691-7.

Fritsche-Polanz R, Wallner M, Cohen G, Eberle C, Sunder-Plassmann G, Fdinger M.2004.Granulocyte function in patients with L-ferritin iron-responsive element (IRE) 39C-->T-positive hereditary hyperferritinaemia-cataract syndrome.Eur J Clin Invest. 34:701-8.

Sunder-Plassmann G, Fdinger M. 2004. Underuse of Hardy-Weinberg equilibrium. KidneyInt. 66:1711. (letter)

Winkelmayer WC, Sunder-Plassmann G, Huber A, Fdinger M. 2004. Patterns of co-occurrence of three single nucleotide polymorphisms of the 5,10 methylenetetrahydrofolatereductase gene in kidney transplant recipients.Eur J Clin Invest. 2004: 613-8.

Feix A, Winkelmayer WC, Eberle C, Sunder-Plassmann G, Fdinger M. 2004. Methioninesynthase reductase MTRR 66A > G has no effect on total homocysteine, folate, and VitaminB12 concentrations in renal transplant patients.Atherosclerosis. 2004 174:43-8.

Fdinger M, Sunder-Plassmann G. 2003. Low clinical penetrance of homozygosity for HFEC282Y: implications for genetic testing?Eur J Clin Invest.33:737-9. (editorial)

Fdinger M, Veitl M, Skoupy S, Wojcik J, Rohrer C, Hagen W, Puttinger H, Hauser AC,Vychytil A, Sunder-Plassmann G. 2003. Effect of TCN2 776C>G on vitamin B12 cellularavailability in end-stage renal disease patients. Kidney Int.64:1095-100.

Winkelmayer WC, Eberle C, Sunder-Plassmann G, Fdinger M. 2003. Effects of theglutamate carboxypeptidase II (GCP2 1561C>T) and reduced folate carrier (RFC1 80G>A)allelic variants on folate and total homocysteine levels in kidney transplant patients. Kidney

Int. 63:2280-5.

Fdinger M, Dierkes J, Skoupy S, Rhrer C, Hagen W, Puttinger H, Hauser AC, Vychytil A,Sunder-Plassmann G. 2003. Effect of glutamate carboxypeptidase II and reduced folate carrierpolymorphisms on folate and total homocysteine concentrations in dialysis patients.J Am SocNephrol. 14:1314-9.

Sunder-Plassmann G, Fdinger M. 2003. Genetic determinants of the homocysteine level.Kidney IntSuppl. 84:S141-4. (review)

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Sunder-Plassmann G, Kittler H, Eberle C, Hirschl MM, Woisetschlager C, Derhaschnig U,Laggner AN, Hrl WH, Fdinger M. 2002. Angiotensin converting enzyme DD genotype isassociated with hypertensive crisis. Crit Care Med.30:2236-41.

Sunder-Plassmann G, Fdinger M. 2002. Cost-effectiveness of homocysteine-loweringtherapy to prevent coronary heart disease.JAMA. 287:190. (letter)

Trndle U, Sunder-Plassmann G, Burgmann H, Buchmayer H, Kramer L, Bieglmayer C, HrlWH, Fdinger M. 2001. Molecular and clinical characterisation of homocystinuria in twoAustrian families with cystathionine beta-synthase deficiency.Acta Med Austriaca28:145-51.

Feix A, Fritsche-Polanz R, Kletzmayr J, Vychytil A, Hrl WH, Sunder-Plassmann G,Fdinger M. 2001. Increased prevalence of combined MTR and MTHFR genotypes amongindividuals with severely elevated total homocysteine plasma levels. Am J Kidney Dis.38:956-64.

Fdinger M, Buchmayer H, Heinz G, Papagiannopoulos M, Kletzmayr J, Perschl A, VychytilA, Hrl WH, Sunder-Plassmann G. 2001. Association of two MTHFR polymorphisms withtotal homocysteine plasma levels in dialysis patients.Am J Kidney Dis. 38:77-84.

Fritsche-Polanz R, Jordan JH, Feix A, Sperr WR, Sunder-Plassmann G, Valent P, Fdinger M.2001. Mutation analysis of C-KIT in patients with myelodysplastic syndromes withoutmastocytosis and cases of systemic mastocytosis.Br J Haematol. 113:357-64.

Fdinger M, Sunder-Plassmann G. 2001. Increased cysteine plasma levels in kidney

transplants: a potential vascular disease risk factor? Transplantation. 71:713-5.

Fdinger M, Wagner OF, Hrl WH, Sunder-Plassmann G. 2001. Recent insights into themolecular genetics of the homocysteine metabolism. Kidney Int Suppl.78:S238-42. (review)

Sunder-Plassmann G, Winkelmayer WC, Fdinger M. 2000. Therapeutic potential of totalhomocysteine-lowering drugs on cardiovascular disease.Expert Opin Investig Drugs. 9:2637-51. (review)

Buchmayer H, Sunder-Plassmann G, Hirschl MM, Kletzmayr J, Woisetschlager C, LaggnerAN, Hrl WH, Fdinger M. 2000. G-protein beta3 subunit gene (GNB3) polymorphism 825C-->T in patients with hypertensive crisis. Crit Care Med. 28:3203-6.

Fdinger M, Buchmayer H, Heinz G, Papagiannopoulos M, Kletzmayr J, Rasoul-Rockenschaub S, Hrl WH, Sunder-Plassmann G. 2000. Effect of MTHFR 1298A-->C andMTHFR 677C-->T genotypes on total homocysteine, folate, and vitamin B(12) plasmaconcentrations in kdiney graft recipients.J Am Soc Nephrol. 11:1918-25.

Floth A, Sunder-Plassmann G, Fdinger M. 2000. Polymerase chain reaction amplification ofbacterial 16s rRNA in biopsy samples. Urology. 55:788-9. (letter)

Sunder-Plassmann G, Floth A, Fdinger M. 2000. Hyperhomocysteinemia in organtransplantation. Curr Opin Urol. 10:87-94. (review)

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Fdinger M, Fritsche-Polanz R, Buchmayer H, Skoupy S, Sengoelge G, Hrl WH, Sunder-Plassmann G. 2000. Erythropoietin-inducible immediate-early genes in human vascularendothelial cells.J Investig Med. 48:137-49.

Fdinger M, Hrl WH, Sunder-Plassmann G. 2000. Molecular biology of 5,10-methylenetetrahydrofolate reductase.J Nephrol. 13:20-33. (review)

Co-author manuscripts:

Steiner S, Winkelmayer WC, Kleinert J, Grisar J, Seidinger D, Kopp CW, Watschinger B,Minar E, Hrl WH, Fdinger M, Sunder-Plassmann G. 2006. Endothelial progenitor cells inkidney transplant recipients. Transplantation. 81:599-606.

Schaeffner ES, Fdinger M, Kramar R, Frei U, Hrl WH, Sunder-Plassmann G, Winkelmayer

WC. 2006. Prognostic associations between lipid markers and outcomes in kidney transplantrecipients.Am J Kidney Dis. 47:509-17.

Lechner K, Fdinger M, Grisold W, Puspok A, Sillaber C. 2005. Vitamin B12 deficiency.New data on an old theme. Wien Klin Wochenschr. 117:579-91. (review)

Schaller G, Scheiber-Mojdehkar B, Wolzt M, Puttinger H, Mittermayer F, Hrl WH, FdingerM, Sunder-Plassmann G, Vychytil A. 2005. Intravenous iron increases labile serum iron butdoes not impair forearm blood flow reactivity in dialysis patients. Kidney Int. 68:2814-22.

Tylicki L, Fdinger M, Puttinger H, Rutkowski P, Strozecki P, Tyszko S, Rutkowski B, Hrl

WH. 2005. Methylenetetrahydrofolate reductase gene polymorphisms in essentialhypertension relation: with the development of hypertensive end-stage renal disease. Am J

Hypertens. 18:1442-8.

Hauser AC, Gessl A, Lorenz M, Voigtlander T, Fdinger M, Sunder-Plassmann G. 2005. Highprevalence of subclinical hypothyroidism in patients with Anderson-Fabry disease. J InheritMetab Dis. 28:715-22.

Krokowski M, Sotlar K, Krauth MT, Fdinger M, Valent P, Horny HP. 2005. Delineation ofpatterns of bone marrow mast cell infiltration in systemic mastocytosis: value of CD25,correlation with subvariants of the disease, and separation from mast cell hyperplasia. Am JClin Pathol. 124:560-8.

Steiner S, Schaller G, Puttinger H, Fdinger M, Kopp CW, Seidinger D, Grisar J, Hrl WH,Minar E, Vychytil A, Wolzt M, Sunder-Plassmann G. 2005. History of cardiovascular diseaseis associated with endothelial progenitor cells in peritoneal dialysis patients.Am J Kidney Dis.46:520-8.

Valent P, Arock M, Bischoff SC, Buhring HJ, Brockow K, Escribano L, Fdinger M, GrabbeJ, Hartmann K, Henz BM, Horny HP, Kluin-Nelemans HC, Lima M, Marone G, Orfao A,Parwaresch RM, Sillaber C, Sotlar K, Sperr WR, Triggiani M, Van Doormaal JJ, Wolff K,

Zuberbier T. 2004. The European Competence Network on Mastocytosis (ECNM). Wien KlinWochenschr. 116:647-51.

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Kleinert J, Lorenz M, Hauser AC, Becherer A, Staudenherz A, Fdinger M, Sunder-Plassmann G. 2005. Measurement of renal function in patients with Fabry disease. ActaPaediatr Suppl. 94:19-23.

Florian S, Krauth MT, Simonitsch-Klupp I, Sperr WR, Fritsche-Polanz R, Sonneck K,

Fdinger M, Agis H, Bohm A, Wimazal F, Horny HP, Valent P. 2005. Indolent systemicmastocytosis with elevated serum tryptase, absence of skin lesions, and recurrent severeanaphylactoid episodes.Int Arch Allergy Immunol. 136:273-80.

Huemer M, Huemer C, Ulmer H, Crone J, Fdinger M, Falger J, Sailer-Hock M. 2005. Noevidence for hyperhomocysteinemia or increased prevalence of genetic polymorphisms in thehomocysteine pathway in patients with moderate juvenile idiopathic arthritis. J Rheumatol.32:170-4.

Valent P, Akin C, Sperr WR, Mayerhofer M, Fdinger M, Fritsche-Polanz R, Sotlar K,Escribano L, Arock M, Horny HP, Metcalfe DD. 2005. Mastocyto