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

MarinGarcia Jose | Zendy; Hu Yaping | Zendy; Ananthakrishnan Radha | Zendy; Pierpont Mary Ella | Zendy; Pierpont Gordon L. | Zendy; Goldenthal Michael J. | Zendy

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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.

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