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

Ophthalmology & Visual Neurosciences

Research output: Contribution to journal › Article › peer-review

30 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 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

Keywords

Cardiomyopathy
Mitochondrial DNA
Myocardial ischemia

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Publisher link

10.1080/15216549600201053

Find It

Find It at U of M Libraries

Cite this

@article{b7e85b4084df45d2b572b4aa035aab46,

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

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.",

keywords = "Cardiomyopathy, Mitochondrial DNA, Myocardial ischemia",

author = "Jose Marin-Garcia and Yaping Hu and Radha Ananthakrishnan and Pierpont, \{Mary Ella\} and Pierpont, \{Gordon L.\} and Goldenthal, \{Michael J.\}",

year = "1996",

doi = "10.1080/15216549600201053",

language = "English (US)",

volume = "40",

pages = "487--495",

journal = "Biochemistry and Molecular Biology International",

issn = "1039-9712",

publisher = "John Wiley and Sons Inc.",

number = "3",

}

TY - JOUR

T1 - A point mutation in the cytb gene of cardiac mtDNA associated with complex III deficiency in ischemic cardiomyopathy

AU - Marin-Garcia, Jose

AU - Hu, Yaping

AU - Ananthakrishnan, Radha

AU - Pierpont, Mary Ella

AU - Pierpont, Gordon L.

AU - Goldenthal, Michael J.

PY - 1996

Y1 - 1996

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

UR - https://www.scopus.com/pages/publications/0029955977

UR - https://www.scopus.com/inward/citedby.url?scp=0029955977&partnerID=8YFLogxK

U2 - 10.1080/15216549600201053

DO - 10.1080/15216549600201053

M3 - Article

C2 - 8908357

AN - SCOPUS:0029955977

SN - 1039-9712

VL - 40

SP - 487

EP - 495

JO - Biochemistry and Molecular Biology International

JF - Biochemistry and Molecular Biology International

IS - 3

ER -

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

Abstract

Keywords

UN SDGs

Publisher link

Find It

Other files and links

Fingerprint

Cite this