kearns-sayre syndrome charles shepherd bio 313 charles shepherd bio 313
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![Page 1: Kearns-Sayre Syndrome Charles Shepherd Bio 313 Charles Shepherd Bio 313](https://reader035.vdocuments.us/reader035/viewer/2022072017/56649eff5503460f94c14ecb/html5/thumbnails/1.jpg)
Kearns-Sayre SyndromeKearns-Sayre SyndromeCharles Shepherd
Bio 313
![Page 2: Kearns-Sayre Syndrome Charles Shepherd Bio 313 Charles Shepherd Bio 313](https://reader035.vdocuments.us/reader035/viewer/2022072017/56649eff5503460f94c14ecb/html5/thumbnails/2.jpg)
BackgroundBackground
• Rare neuromuscular disorder• Only 226 cases reported in literature
• Effects mitochondria• Large duplications or deletions in mitochondrial DNA
(>1000bp) results in under or over production of mitochondrial gene products
• 1/3 cases 4977bp deletion
• Randomly effects people• only isolated reports of any kind or inheritance pattern
• Prognosis• Depends on severity• Severe cases 85% muscle mitochondrial genome
affected
• Rare neuromuscular disorder• Only 226 cases reported in literature
• Effects mitochondria• Large duplications or deletions in mitochondrial DNA
(>1000bp) results in under or over production of mitochondrial gene products
• 1/3 cases 4977bp deletion
• Randomly effects people• only isolated reports of any kind or inheritance pattern
• Prognosis• Depends on severity• Severe cases 85% muscle mitochondrial genome
affected
![Page 3: Kearns-Sayre Syndrome Charles Shepherd Bio 313 Charles Shepherd Bio 313](https://reader035.vdocuments.us/reader035/viewer/2022072017/56649eff5503460f94c14ecb/html5/thumbnails/3.jpg)
SymptomsSymptoms• Onset before 20 and includes
• Immobile or limited eye movement• Abnormal pigment in eyes• Cardiac problems or congestive heart failure• Muscle and skeletal weakness• Short stature• Hearing • Ataxia (coordination problems)• Diabetes• Dementia and other mental illnesses
• Affects systems with higher energy requirements most
• Onset before 20 and includes• Immobile or limited eye movement• Abnormal pigment in eyes• Cardiac problems or congestive heart failure• Muscle and skeletal weakness• Short stature• Hearing • Ataxia (coordination problems)• Diabetes• Dementia and other mental illnesses
• Affects systems with higher energy requirements most
![Page 4: Kearns-Sayre Syndrome Charles Shepherd Bio 313 Charles Shepherd Bio 313](https://reader035.vdocuments.us/reader035/viewer/2022072017/56649eff5503460f94c14ecb/html5/thumbnails/4.jpg)
DiagnosisDiagnosis• Southern Blots using samples taken from
affected tissue– Isolate mitochondrial DNA from affected tissue
• 16.5 kb = normal • Additional larger or smaller bands found by probes =
duplication or deletion
• Accumulation of symptoms• Check the protein and lactate levels in the
cerebrospinal fluid • if present, the levels are elevated.
• Southern Blots using samples taken from affected tissue
– Isolate mitochondrial DNA from affected tissue• 16.5 kb = normal • Additional larger or smaller bands found by probes =
duplication or deletion
• Accumulation of symptoms• Check the protein and lactate levels in the
cerebrospinal fluid • if present, the levels are elevated.
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TreatmentTreatment
• Supportive • Syndrome becomes worse with time • inevitably fatal
• Symptomatic• Heart• Muscle• Hearing• Diabetes• Vision• Drugs
• Supportive • Syndrome becomes worse with time • inevitably fatal
• Symptomatic• Heart• Muscle• Hearing• Diabetes• Vision• Drugs
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Noticed Anomalies in lab studiesNoticed Anomalies in lab studies
• Changes in grey and white matter levels in various parts of the brain
• Many help explain dementia seen in some individuals
• Abnormally large irregularly shaped mitochondria in heart and skeletal muscle
• Changes in grey and white matter levels in various parts of the brain
• Many help explain dementia seen in some individuals
• Abnormally large irregularly shaped mitochondria in heart and skeletal muscle
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ReferencesReferences
• http://www.ninds.nih.gov/disorders/kearns_sayre/kearns_sayre.htm
• http://www.emedicine.com/ped/topic2763.htm
• Pasternak, J. J. An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases. 2nd ed. New Jersey: Wisley, 2005.
• http://www.ninds.nih.gov/disorders/kearns_sayre/kearns_sayre.htm
• http://www.emedicine.com/ped/topic2763.htm
• Pasternak, J. J. An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases. 2nd ed. New Jersey: Wisley, 2005.