Dr. Pei Duanqing and Dr. Miguel Esteban of the Chinese Academy of Sciences Guangzhou Institute of Biomedicine and Health have successfully established induced pluripotent stem cells for Turner's syndrome, Warkany syndrome, trisomy 13 and Emanuel syndrome Aneuploidy does not affect the occurrence and completion of reprogramming, nor does it affect the self-renewal and differentiation ability of pluripotent cells.
In addition, the researchers conducted an in-depth exploration of the impact of aneuploidy on early embryonic development of IPNs in Turner's syndrome, and found that during the early development of induced pluripotent stem cells in Turner's syndrome The expression level of the gene CSF2RA is lower than that of normal pluripotent cells.
The study pointed out that the reduction of key gene expression doses may lead to imperfect placenta development in Turner syndrome embryos, which may eventually lead to miscarriage. The results have been published in the international academic journal Human Molecular Genetics on January 1, 2012.
Aneuploidy refers to the missing or extra chromosome in the euploid chromosome. About two-thirds of aneuploid embryos will spontaneously abort during early development, and newborns who survive to birth generally have serious physiological diseases and intellectual disabilities due to organ developmental deformities. Died within the year. At present, the pathogenesis of chromosomal aneuploidy syndrome is unclear. Due to the difficulty in obtaining materials, the related research progress is slow.
The aneuploid induced pluripotent stem cells established in this study provide a source of stem cells for further research on the problems that arise during the early development of other aneuploid embryos.
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