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Further data on mitochondrial malic enzyme in man.

N Saha, S J Jeremiah, S Povey

    Human Heredity
    |January 1, 1978
    PubMed
    Summary
    This summary is machine-generated.

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    Mitochondrial malic enzyme (MEM) gene frequencies in the human brain show distinct patterns in European populations. No significant variations were observed across sexes or age groups, indicating genetic stability.

    Area of Science:

    • Biochemistry
    • Human Genetics
    • Molecular Biology

    Background:

    • Mitochondrial malic enzyme (MEM) is crucial for cellular metabolism.
    • Understanding MEM genetic variation is important for population genetics and disease association studies.
    • Previous studies on MEM in human tissues have been limited.

    Purpose of the Study:

    • To investigate the genetic variation and tissue distribution of mitochondrial malic enzyme in the human population.
    • To determine the gene frequencies of MEM in human brain samples.
    • To analyze potential differences in MEM expression across sexes and age groups.

    Main Methods:

    • Starch-gel electrophoresis was employed to analyze mitochondrial malic enzyme.
    • Human brain samples from 291 adults and 118 fetuses of European origin were examined.

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  • Gene frequencies were calculated, and phenotype distributions were compared between sexes and age groups.

    • Main Results:

    • Mitochondrial malic enzyme gene frequencies were estimated as MEM10.65 and MEM20.35.
    • No significant differences in phenotype distribution were found between sexes or between adults and fetuses.
    • MEM activity was highest in the brain, but also detected in adult testis, heart, and kidney.

    Conclusions:

    • The genetic distribution of mitochondrial malic enzyme in the human brain is stable across sexes and developmental stages in European populations.
    • MEM is widely expressed in various human tissues, with the highest activity in the brain.
    • An additional isozyme in heart muscle was identified as a result of enzymatic activity on citrate during electrophoresis.