A point mutation in the cytb gene of cardiac mtDNA associated with complex III deficiency in ischemic cardiomyopathy

Jose Marin-Garcia, Yaping Hu, Radha Ananthakrishnan, Mary Ella Pierpont, Gordon L. Pierpont, Michael J. Goldenthal

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29 Scopus citations

Abstract

We report a high incidence of reduced respiratory Complex III activity in heart muscle concomitant with the presence of a specific mutation in cytochrome b (cytb) in patients with ischemic cardiomyopathy. This C → A mutation at nt 15452 converts the 236th residue of cytb from a leucine to isoleucine, is heteroplasmic and was observed in only 2 of 43 controls. Complex III activity is reduced (> 50%) in 5 of 6 patients with the C → A15452 mutation suggesting that the cytb mutation is responsible for decreased Complex III activity and may play a role in the pathophysiology of ischemic cardiomyopathy.

Original languageEnglish (US)
Pages (from-to)487-495
Number of pages9
JournalBiochemistry and Molecular Biology International
Volume40
Issue number3
DOIs
StatePublished - 1996

Keywords

  • Cardiomyopathy
  • Mitochondrial DNA
  • Myocardial ischemia

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