Neurology. 1983 Jun;33(6):780-3.

Friedreich's disease: IV. Reduced mitochondrial malic enzyme activity in heterozygotes.

Abstract

Friedreich's disease (FD) obligate heterozygotes have reduced mitochondrial malic enzyme (MEm) activity in cultured fibroblasts. This indicates that the MEm deficiency in homozygous affected patients is genetically determined. Heterozygote MEm activity was only 20% of the control mean activity, lower than the 50% expected in an autosomal-recessive disorder. This may result from negative interactions between mutant and normal subunits in the tetrameric enzyme. These data support the idea that MEm deficiency causes FD, but further studies are required to prove this hypothesis.

PMID:: 6682522; [PubMed - indexed for MEDLINE]

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Malate Dehydrogenase

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Cited by 1 PubMed Central article

Mitochondrial malic enzyme in Friedreich's ataxia: failure to demonstrate reduced activity in cultured fibroblasts. [J Neurol Neurosurg Psychiatry....]
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