Friedreich’s disease: IV. reduced mitochondrial malic enzyme activity in heterozygotes

David A. Stumpf*, Janice K. Parks, W. Davis Parker

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)780-783
Number of pages4
JournalNeurology
Volume33
Issue number6
DOIs
StatePublished - Jun 1983

ASJC Scopus subject areas

  • Clinical Neurology

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