A treatment for sickle cell disease in a mouse model
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A treatment for sickle cell disease in a mouse model. Group A5 Laura Plank, Truc Nguyen, Joshua Trinidad, and Peyton Dent. Introduction . Sickle cell is an autosomal recessive genetic blood disorder with overdominance (Wikipedia).

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A treatment for sickle cell disease in a mouse model

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A treatment for sickle cell disease in a mouse model

A treatment for sickle cell disease in a mouse model

Group A5

Laura Plank, Truc Nguyen, Joshua Trinidad, and Peyton Dent


Introduction

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

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

Data and Results (Xu, et.al.)

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


Data and results xu et al1

Data and Results (Xu, et.al.)

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


Data and results xu et al2

Data and Results (Xu, et.al.)

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


Discussion

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

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

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.


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