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    Home > Active Ingredient News > Study of Nervous System > Mol Cell: Study reveals pathogenesis of Rett syndrome

    Mol Cell: Study reveals pathogenesis of Rett syndrome

    • Last Update: 2020-06-16
    • Source: Internet
    • Author: User
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    June 12, 2020 /PRNewswire/--- A study published in the journal Molecular Cell by researchers at Yale University suggests that an experimental cancer drug can extend the life span of mice with Rett syndromeRett syndrome is a genetic disease that causes about one in every 10,000 to 15,000 girlsRett syndrome causes individuals to develop language, learning and other severe brain function defects, and eventually leads to death, a condition that usually occurs in adolescenceIn addition, the results suggest that the drug, called JQ1, can also restore cellular function in neurons(Photo:The study, led by In-Hyun Park, an associate professor of genetics at Yale University and senior author of the Yale Children's Research Center and Stem Cell Center, wants to understand how mutations in the MECP-2 gene cause damage to neuronal functionThey created a human brain organ containing the mutation from embryonic stem cells and found serious abnormalities in several brain cellsSpecifically, a genetic mutation affects a brain cell called an intermediate neuron that regulates the brain's excitabilityThe researchers then screened a variety of compounds and found that a drug called JQ1 was effective in improving neuronal abnormalities in the Rett syndrome modelBy testing the drug in a mouse model of Rett syndrome, the researchers found that the mice treated lived twice as long as those who did not receive the drugThe researchers believe the study paves the way for further research into potential new methods of Reiter's syndrome( Source: Researchers find for treatment for Rett Syndrome Original Source: Dysregulation of BRD4 Function Underlies The Functional Director of MeCP2 Mutant NeuronMol Cell2020DOI:
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