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Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

Abstract：

:Many individuals with abnormalities of mitochondrial respiratory chain complex III remain genetically undefined. Here, we report mutations (c.288G>T [p.Trp96Cys] and c.643C>T [p.Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoacidosis and insulin-responsive hyperglycemia. Cytochrome c1, the heme-containing component of complex III, mediates the transfer of electrons from the Rieske iron-sulfur protein to cytochrome c. Cytochrome c1 is present at reduced levels in the skeletal muscle and skin fibroblasts of affected individuals. Moreover, studies on yeast mutants and affected individuals' fibroblasts have shown that exogenous expression of wild-type CYC1 rescues complex III activity, demonstrating the deleterious effect of each mutation on cytochrome c1 stability and complex III activity.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Gaignard P,Menezes M,Schiff M,Bayot A,Rak M,Ogier de Baulny H,Su CH,Gilleron M,Lombes A,Abida H,Tzagoloff A,Riley L,Cooper ST,Mina K,Sivadorai P,Davis MR,Allcock RJ,Kresoje N,Laing NG,Thorburn DR,Slama A,Christo

doi

10.1016/j.ajhg.2013.06.015

subject

Has Abstract

pub_date

2013-08-08 00:00:00

pages

384-9

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(13)00284-X

journal_volume

93

pub_type

杂志文章

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