A treatment for sickle cell disease in a mouse modelGroup A5Laura Plank, Truc Nguyen, Joshua Trinidad, and Peyton Dent

Introduction

• Sickle cell is an autosomal recessive genetic blood disorder with overdominance (Wikipedia).

• The disease is caused by an abnormal hemoglobin, hemoglobin S or HbS.

• BCL11A is a gene that is found in humans and is also found in mice.

• Gene silencing • Inactivating BCL11A

http://www.childrenshospital.org/newsroom/Site1339/mainpageS1339P778.html

Methods •An experiment was setup to observe red

blood cells of three different groups of mice.

•The first group was the control group•The second group contained mice that

had SCD•The third group contained mice with SCD,

but where BCL11A was inactivated.

Data and Results (Xu, et.al.)

http://www.sciencemag.org/content/334/6058/993/F1.large.jpg

Data and Results (Xu, et.al.)

http://www.sciencemag.org/content/334/6058/993/F1.large.jpg

Data and Results (Xu, et.al.)

http://www.sciencemag.org/content/334/6058/993/F3.expansion.html

Discussion

•BCL11A is a transcription factor converting HbF to HbA

•Essential in erythroid maturation•Silencing BCL11A prevents HbF conversion to HbA

•Absence of BCL11A does not affect erythroid maturity

Conclusion

•Gene regulation is important in regards to reversing sickle cell disease through the silencing of BCL11A which reduces the phenotypic expression of SCD.

Works Cited• Freeman, Scott. Biological Science. 4th ed. San

Francisco, CA: Benjamin Cummings, 2011. Print • Graham, Rob. "Dialing up fetal hemoglobin dials down

sickle cell disease." Boston Children's Hospital. N.p., 13 2011. Web. 19 Nov 2012.http://www.childrenshospital.org/newsroom/Site1339/mainpageS1339P778.html

• “Sickle-cell disease.” Wikipedia. Web. 19 Nov. 2012.• Xu, Jian, et al. “Correction of Sickle Cell Disease in Adult

Mice by Interference with Fetal Hemoglobin Silencing.” Science 334 (2011): 993-996. Web. 10 Nov. 2012.