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A point mutation in the cytb gene of cardiac mtDNA associated with Complex III deficiency in ischemic cardiomyopathy
Author(s) -
MarinGarcia Jose,
Hu Yaping,
Ananthakrishnan Radha,
Pierpont Mary Ella,
Pierpont Gordon L.,
Goldenthal Michael J.
Publication year - 1996
Publication title -
iubmb life
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.132
H-Index - 113
eISSN - 1521-6551
pISSN - 1521-6543
DOI - 10.1080/15216549600201053
Subject(s) - heteroplasmy , cardiomyopathy , mutation , point mutation , medicine , pathophysiology , mitochondrial dna , biology , genetics , cardiology , gene , heart failure
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.