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Korean Researchers Identify Genetic Factors that Cause Cognitive Impairment in Down Syndrome Patients
Findings to Contribute to Development of Treatment
Korean Researchers Identify Genetic Factors that Cause Cognitive Impairment in Down Syndrome Patients
  • By Choi Moon-hee
  • June 12, 2019, 12:17
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Professor Min Kyung-tae (right) and researcher Choi Chee-yeol (doctoral program student) of Ulsan National Institute of Science and Technology (UNIST)

Korean researchers have identified the Down syndrome critical region gene 1 (DSCR1), an intellectual disability-causing factor in Down syndrome, and its mechanism of action for the first time in the world.

Adult neurogenesis is the process by which new neurons are created in the hippocampus of the adult brain. To date, many neurological diseases, such as neurodegenerative disorders Alzheimer's disease and Parkinson's disease, as well as neurodevelopmental disorders, including schizophrenia and Down syndrome, have been identified to be caused by adult neurogenesis. However, the pathological relationship between these diseases and adult neurogenesis and the molecular and cytological mechanisms are still insufficiently understood.

UNIST announced on June 11 that Professor Min’s team discovered, using DSCR1 genetically modified mice, that DSCR1 gene plays a key role in the expression of TET1 protein and miR-124, which are important epigenetic regulators in adult neurogenesis.

The researchers successfully restored the number of overexpressed DSCR1 genes in Down syndrome mouse model (Ts65Dn) with impaired learning and memory abilities, which led to recovery of damaged adult neurogenesis and learning and memory deficits.

"The expression of two epigenetic regulators (TET1 protein and miR-124) by DSCR1 protein is the operation principle of adult neurogenesis in the hippocampus and the core mechanism of adult neurogenesis impairment in Down syndrome," said researcher Choi, the first author of the paper.

Professor Min said, "These results will provide a fundamental understanding of the mechanisms that regulate the hippocampal neurogenesis in the adult brain," adding, "We expect the findings to contribute to the development of therapeutic agents that can treat cognitive deficits in Down syndrome patients."

The study was published on June 11 in The EMBO Journal, a world-renowned journal in the molecular biology.