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    Home > Active Ingredient News > Study of Nervous System > JNNP—Wei Qiu/Qingfen Yu team discovers susceptibility genes for diseases in the familial neuromyelitis lineage

    JNNP—Wei Qiu/Qingfen Yu team discovers susceptibility genes for diseases in the familial neuromyelitis lineage

    • Last Update: 2022-10-03
    • Source: Internet
    • Author: User
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    Written by Chang Yanyu

    Responsible editor - Wang Sizhen

    Editor—Binwei Yang


    Neuromyelitis Optica Spectrum Disorders (NMOSD) is an autoimmune disease of the central nervous system that tends to occur in young and middle-aged women in Asia, characterized by recurrent optic neuritis, myelitis and inflammation damage at other specific locations in the skull, with severe symptoms each recurrence and may leave irreversible neurological disability with a high rate of disability.
    It is one of
    the important factors of non-traumatic disability in China's young and middle-aged population.

    Autoimmune antibodies to Aquaporin 4 (AQP4) play an important role
    in its onset.

    The current incidence of NMOSD worldwide is about 0.
    3 to 4.
    4 per 100,000 people
    .

    Most cases of NMOSD are sporadic cases, but about 3% of NMOSD cases are characterized by
    family clusters.

    Familial cluster seizures and high incidence in Asian populations suggest that genetic factors play an important role
    in the pathogenesis of NMOSD.

    However, there is still a lack
    of research on the genetic background of NMOSD, especially familial NMOSD.


    On September 1, 2022, the team of Wei Qiu and Qingfen Yu of the Third Affiliated Hospital of Sun Yat-sen University published a report in the Journal of Neurology, Neurosurgery and Psychiatry (JNNP) titled "Clinical and genetic analysis of familial neuromyelitis optica spectrum disorder in.
    " Chinese: associated with ubiquitin-specific peptidase USP18 gene variants" article explains the clinical characteristics of familial NMOSD patients in China, as well as the possibility that SNP rs2252257 polymorphisms located on the promoter and enhancer region of ubiquitin-specific peptidase USP18 gene may be involved in familial NMOSD pathogenesis
    .



    The authors used questionnaire survey to analyze the family history of NMOSD patients diagnosed in the Third Affiliated Hospital of Sun Yat-sen University, the Second Affiliated Hospital of Guangzhou Medical University, West China Hospital and Huashan Hospital from 2016 to 2020, and found a total of 10 NMOSD families, including 22 NMOSD patients, and analyzed the clinical characteristics of familial NMOSD patients.



    Original link: https://jnnp.



    Corresponding authors: Qiu Wei (left), Yu Qingfen (right)

    (Photo courtesy of: Qiu Wei/Yu Qingfen team)

    About the Corresponding Author (Swipe Up and Down to Read)

    Qiu Wei is the assistant dean of the Third Affiliated Hospital of Sun Yat-sen University, the deputy director of the Department of Neurology, the director of the Office of the Encephalopathy Center, a professor, a chief physician, and a doctoral supervisor
    .


    Yu Qingfen, Associate Researcher of the Department of Neurology, Third Affiliated Hospital of Sun Yat-sen University, Master Supervisor, Young Academic Backbone
    of Sun Yat-sen University's "Hundred Talents Program".

    2016 German Yulich Research Center Master Supervisor; In 2022, he is a member of the first committee of
    the Guangdong-Hong Kong-Macao University Psychiatric and Neurological Disease Alliance.

    His main research interests are the pathogenic mechanism of protein nucleic acids by molecular dynamics simulation, the wrapping mechanism of nanoparticles and cell membranes by finite element analysis, and the mechanism
    of action of gene proteins by multi-omics sequencing analysis.

    He has published more than 10 SCI articles and works, including 3 first-author articles, 2 co-authors and reports, 1 co-corresponding author, 2 impact factor IF>10, 3 JCR District 1 of the Chinese Academy of Sciences, and published academic journals such as Nano Lett.
    , Nanoscale, J Phys.
    Chem.
    B.
    etc
    .

    He has participated in the EU Horizon Project CompBioMed, the EU FP7 NMP cooperation project PreNanoTox, and the National Construction of High-level University Public Postgraduate Program
    .



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