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    Home > Active Ingredient News > Study of Nervous System > Science: reveals that PCDH19-Ncad mismatch causes female-specific PCDH19 disorders

    Science: reveals that PCDH19-Ncad mismatch causes female-specific PCDH19 disorders

    • Last Update: 2021-06-08
    • Source: Internet
    • Author: User
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    News April 19, 2021//---X-linked PCDH19 (Protocadherin-19) gene mutation can lead to PCDH19 disorder (PCDH19 disorder) accompanied by epilepsy.


    Genetic

    In a new study, researchers from Harvard Medical School in the United States explored the exact role of PCDH19 in the brain, as well as the molecular, synaptic, and circuit basis of the female-specific disease phenotype.




    In order to understand the role of PCDH19 in the brain and the basis of the female-specific disease phenotype, these authors developed an animal model of PCDH19 disorder (Pcdh19 mutant mice).


    HET♀



    HET♀ HEMI♂ HET♀ HEMI♂ HET♀ HET♀

    In summary, Pcdh19 HET♀ mice but not Pcdh19 HEMI♂ mice exhibited mossy fiber presynaptic dysfunction and cognitive impairment, thus mimicking the female-specific performance of PCDH19 disorder.


    HET♀ HEMI♂ HET♀ WT HEMI♂

    Reference:


    Reference:

    Naosuke Hoshina et al.
    Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder .
    Science, 2021, doi:10.
    1126/science.
    aaz3893.


    Belal Shohayeb et al.
    Mosaic synapses in epilepsy .
    Science, 2021, doi:10.
    1126/science.
    abh3555.
    Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder

    Mosaic synapses in epilepsy
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