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Human mitochondrial malic enzyme variants: properties of the different polymorphic forms

A Burchell, A Crosby, P T Cohen

    Annals of Human Genetics
    |July 1, 1977
    PubMed
    Summary

    The human mitochondrial malic enzyme polymorphism is present in Scottish and Caucasian populations. Researchers purified and characterized three variants (MEM1, MEM2-1, MEM2), finding no significant biochemical differences among them.

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    Area of Science:

    • Biochemistry
    • Human Genetics
    • Population Studies

    Background:

    • Mitochondrial malic enzyme (MEM) is crucial for cellular metabolism.
    • Genetic polymorphisms in MEM can influence enzyme function and disease susceptibility.
    • Previous studies identified MEM variants in Caucasian populations.

    Purpose of the Study:

    • To investigate the presence and characteristics of human mitochondrial malic enzyme (MEM) polymorphism in the Scottish population.
    • To compare allele frequencies with previously reported Caucasian populations.
    • To biochemically characterize distinct MEM variants.

    Main Methods:

    • Population genetics analysis to determine allele frequencies.
    • Biochemical separation and partial purification of MEM variants using DEAE Sephadex chromatography.

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  • Enzyme kinetics studies to assess kinetic parameters (Km, activation, inhibition) and stability.

    • Main Results:

    • The human mitochondrial malic enzyme (MEM) polymorphism was identified in the Scottish population.
    • Allele frequencies in the Scottish population were comparable to those found in Caucasian populations.
    • Three distinct MEM variants (MEM1, MEM2-1, MEM2) were purified and exhibited no significant differences in kinetic properties, cofactor activation, or stability.

    Conclusions:

    • The human mitochondrial malic enzyme (MEM) polymorphism is conserved across different Caucasian populations, including Scottish individuals.
    • The characterized MEM variants (MEM1, MEM2-1, MEM2) are biochemically indistinguishable under the tested conditions.
    • Further research is needed to understand the functional or clinical implications of this conserved MEM polymorphism.