A research group led by Dr. Keiji Kawatani and Associate Professor Koji Kitahata of Osaka University Children's Surgical Hospital has applied genome editing technology to human iPS cells, and the mechanism by which astrosites, which play a major role in the development of intellectual disability in Down's disease, proliferate abnormally. And succeeded in identifying the causative gene.

 Human brain tissue is composed of approximately the same number of nerve cells and astrocytes, but it has been found that in the brain tissue of patients with Down's disease, there are few nerve cells and astrocytes are present more than twice as much as usual.Therefore, knowing the cause leads to understanding of intellectual disability and development of treatment methods.On the other hand, the various complications seen in Down's syndrome are caused by the increase in chromosome 2 with 330 genes from the usual 21 to 2 (trisomy), but until now, it has been used to develop treatments for it. It was difficult to create the necessary experimental models such as cells and mice.

 The research group has established a "disease model iPS cell" for Down's syndrome by freely modifying chromosome 21 by making full use of genome editing technology, which has attracted a great deal of attention as a new gene manipulation technology, in human iPS cells. ..By focusing on astrocytes, which play a major role in the maintenance and pathological changes of nerve cells, and inducing and examining astrocyte progenitor cells in the Down's syndrome cell model, astrocytes are overgrown in Down's syndrome. We found that there are two responsible genes, DYRK1A and PIGP.

 The results of this research are important discoveries that not only elucidate the intellectual disabilities of Down's syndrome patients, but also lead to the diagnosis and treatment of dementia, which is becoming a major problem in adult Down's syndrome, and are an opportunity to develop future Down's syndrome research. It is supposed to be.

Paper information:[Communications Biology] A human isogenic iPSC-derived cell line panel identifies major regulators of aberrant astrocyte proliferation in Down syndrome

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