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[Polymorphism of the prion protein PRNP gene and risk of multiple sclerosis development in ethnic Russians from

O V Chubukova, O E Mustafina, A V Chemeris

    Genetika
    |June 19, 2009
    PubMed

    Insights

    The M129V polymorphism in the prion protein gene (PRNP) was studied in multiple sclerosis (MS) patients. The VV genotype may increase the risk of developing MS in individuals aged 21 and older.

    Area of Science:

    • Genetics
    • Neurology
    • Population Studies

    Background:

    • The prion protein gene (PRNP) M129V polymorphism is a known genetic factor studied in various neurological conditions.
    • Understanding its role in multiple sclerosis (MS) susceptibility can provide insights into disease pathogenesis.

    Purpose of the Study:

    • To investigate the association between the PRNP M129V polymorphism and the risk of developing multiple sclerosis (MS) in an ethnic Russian population from Bashkortostan.
    • To compare genotype frequencies between MS patients and healthy controls.

    Main Methods:

    • Genotyping of the PRNP M129V polymorphism was performed using allele-specific PCR.
    • Genotype frequencies (MM, MV, VV) were analyzed in 163 MS patients and 162 healthy controls.

    Main Results:

    • The overall genotype frequency distribution in ethnic Russians from Bashkortostan was comparable to European populations.
    • MS patients exhibited genotype frequencies of MM (43.33%), MV (45.83%), and VV (10.84%).
    • A significantly higher frequency of the VV genotype was observed in MS patients with disease onset at age 21 or older compared to controls (14.3% vs. 6.18%, P=0.041).

    Conclusions:

    • The PRNP M129V VV genotype is suggested to be a potential risk factor for the development of multiple sclerosis in individuals aged 21 years and older.
    • Further research is warranted to elucidate the specific mechanisms underlying this association.

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