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Increased risk of stroke in patients with the A12308G polymorphism in mitochondria

T Pulkes, M G Sweeney, M G Hanna

    Lancet (London, England)
    |January 6, 2001
    PubMed

    Insights

    A specific gene variant, A12308G, in the mitochondrial tRNA(Leu(CUN)) gene significantly increases stroke risk for individuals with the A3243G mutation causing MELAS syndrome. This finding aids in understanding MELAS stroke risk factors.

    Area of Science:

    • Genetics
    • Neurology
    • Mitochondrial Diseases

    Background:

    • The A3243G mutation in mitochondrial DNA is linked to MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke) syndrome.
    • The precise factors elevating stroke risk in MELAS patients remain incompletely understood.
    • Previous research indicated that mutations in the mitochondrial tRNA(Leu(CUN)) gene could modify the biochemical effects of the A3243G mutation in lung cancer cells.

    Discussion:

    • This study investigated the tRNA(Leu(CUN)) gene in 48 unrelated patients carrying the A3243G mutation.
    • A specific polymorphism, A12308G, within the tRNA(Leu(CUN)) gene was identified.
    • The presence of the A12308G polymorphism was associated with a 2.17-fold increased risk of stroke in A3243G mutation carriers.

    Key Insights:

    • The A12308G polymorphism in the mitochondrial tRNA(Leu(CUN)) gene is a significant risk factor for stroke in patients with the A3243G MELAS mutation.
    • This discovery provides a novel genetic marker for predicting stroke susceptibility in this patient population.
    • Understanding these genetic interactions is crucial for managing MELAS syndrome.

    Outlook:

    • The findings have potential implications for genetic counseling and risk stratification in MELAS patients.
    • Further research could explore the mechanistic link between the A12308G polymorphism and stroke pathogenesis.
    • Identifying genetic modifiers like A12308G may lead to targeted therapeutic strategies for preventing stroke in mitochondrial diseases.

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