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

J Marin-Garcia; Y Hu; R Ananthakrishnan; M E Pierpont; G L Pierpont; M J Goldenthal

doi:10.1080/15216549600201053

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

Biochem Mol Biol Int. 1996 Oct;40(3):487-95. doi: 10.1080/15216549600201053.

Authors

J Marin-Garcia¹, Y Hu, R Ananthakrishnan, M E Pierpont, G L Pierpont, M J Goldenthal

Affiliation

¹ Molecular Cardiology Institute, Highland Park, NJ 08904, USA.

PMID: 8908357
DOI: 10.1080/15216549600201053

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.

MeSH terms

Adult
Aged
Cytochrome b Group / genetics*
Cytochrome-c Oxidase Deficiency
DNA, Mitochondrial / genetics*
Electron Transport Complex III / deficiency*
Electron Transport Complex III / metabolism
Electron Transport Complex IV / metabolism
Female
Humans
Male
Middle Aged
Mitochondria, Heart / enzymology
Mitochondria, Heart / genetics
Myocardial Ischemia / genetics*
Myocardial Ischemia / metabolism
Myocardial Ischemia / surgery
NAD(P)H Dehydrogenase (Quinone) / deficiency
NAD(P)H Dehydrogenase (Quinone) / metabolism
Point Mutation*
Polymerase Chain Reaction

Substances

Cytochrome b Group
DNA, Mitochondrial
NAD(P)H Dehydrogenase (Quinone)
Electron Transport Complex IV
Electron Transport Complex III