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

doi:10.1080/15216549600201053

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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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 language	English (US)
Pages (from-to)	487-495
Number of pages	9
Journal	Biochemistry and Molecular Biology International
Volume	40
Issue number	3
DOIs	https://doi.org/10.1080/15216549600201053
State	Published - 1996
Externally published	Yes

Keywords

Cardiomyopathy
Mitochondrial DNA
Myocardial ischemia

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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.",

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AU - Ananthakrishnan, Radha

AU - Pierpont, Mary Ella

AU - Pierpont, Gordon L.

AU - Goldenthal, Michael J.

PY - 1996

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N2 - 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.

AB - 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.

KW - Cardiomyopathy

KW - Mitochondrial DNA

KW - Myocardial ischemia

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

Abstract

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