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[Detoxication gene polymorphism and susceptibility to sporadic motor neuron disease in Russian population]

V I Skvortsova, P A Slominskiĭ, M I Shadrina

    Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova
    |February 7, 2006
    PubMed

    Insights

    Genetic variations in detoxifying enzymes like CYP2E1, CYP2D6, and GSTM1 are linked to motor neuron disease (MND). Specific gene variants, such as GSTP1, may influence disease presentation in MND patients.

    Area of Science:

    • Neuroscience
    • Genetics
    • Toxicology

    Background:

    • Motor neuron disease (MND) involves selective degeneration of motor neurons.
    • Oxygen free radicals are implicated in MND pathogenesis.
    • Detoxification enzymes play a critical role in managing free radicals.

    Purpose of the Study:

    • To investigate the role of detoxifying gene polymorphisms in MND development.
    • To analyze genetic variations in cytochromes P-450, glutathione-S-transferases, and N-acetyltransferases in MND patients.

    Main Methods:

    • Study included 72 patients with MND and control groups from Russia.
    • Genotyping of CYP2E1, CYP2D6, GSTM1, GSTT1, GSTP1, and NAT2 gene polymorphisms.
    • Statistical analysis to compare allele and genotype frequencies between groups.

    Main Results:

    • Significant differences found in frequencies of CYP2E1*1D, CYP2D6*4, and GSTM1(0/0) alleles and GSTM1 homozygous genotypes.
    • No significant differences observed for GSTT1, GSTP1, and NAT1 gene polymorphisms.
    • GSTP1*A/GSTP1*A genotype associated with classical upper and lower motor neuron involvement.
    • GSTP1*A allele linked to predominant lower and upper motor neuron involvement.

    Conclusions:

    • Specific polymorphisms in detoxifying genes (CYP2E1, CYP2D6, GSTM1) are associated with MND.
    • GSTP1 gene variants may influence the clinical presentation of motor neuron involvement in MND.

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