Células-tronco pluripotentes induzidas oferecem nova abordagem em terapias e diagnósticos pré-natais

sábado, maio 30, 2009

Induced pluripotent stem cells offer new approach to therapy in thalassemia and sickle cell anemia and option in prenatal diagnosis in genetic diseases

Lin Yea, Judy C. Changa, Chin Lina, Xiaofang Sunb, Jingwei Yuc and Yuet Wai Kana,c,d,1

+Author Affiliations

Departments of aMedicine and

cLaboratory Medicine,

dInstitute for Human Genetics and Cardiovascular Research Institute, University of California, San Francisco, CA 94143-0793; and

bGuangzhou Key Laboratory of Reproductive and Genetics, Institute of Gynecology and Obstetrics, The Third Affiliated Hospital of Guangzhou Medical College, Guangzhou 510150, China

Contributed by Yuet Wai Kan, April 28, 2009 (sent for review April 16, 2009)


The innovation of reprogramming somatic cells to induced pluripotent stem cells provides a possible new approach to treat β-thalassemia and other genetic diseases such as sickle cell anemia. Induced pluripotent stem (iPS) cells can be made from these patients' somatic cells and the mutation in the β-globin gene corrected by gene targeting, and the cells differentiated into hematopoietic cells to be returned to the patient. In this study, we reprogrammed the skin fibroblasts of a patient with homozygous β0 thalassemia into iPS cells, and showed that the iPS cells could be differentiated into hematopoietic cells that synthesized hemoglobin. Prenatal diagnosis and selective abortion have been effective in decreasing the number of β-thalassemia births in some countries that have instituted carrier screening and genetic counseling. To make use of the cells from the amniotic fluid or chorionic villus sampling that are used for prenatal diagnosis, we also showed that these cells could be reprogrammed into iPS cells. This raises the possibility of providing a new option following prenatal diagnosis of a fetus affected by a severe illness. Currently, the parents would choose either to terminate the pregnancy or continue it and take care of the sick child after birth. The cells for prenatal diagnosis can be converted into iPS cells for treatment in the perinatal periods. Early treatment has the advantage of requiring much fewer cells than adult treatment, and can also prevent organ damage in those diseases in which damage can begin in utero or at an early age.

amniocentesis chorionic villus sampling hematopoietic differentiation hemoglobin


1To whom correspondence should be addressed. E-mail: yw.kan@ucsf.edu

Author contributions: L.Y., J.C.C., and Y.W.K. designed research; L.Y., J.C.C., C.L., and J.Y. performed research; X.S. contributed new reagents/analytic tools; L.Y., J.C.C., J.Y., and Y.W.K. analyzed data; and L.Y., J.C.C., and Y.W.K. wrote the paper.

The authors declare no conflict of interest.


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