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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.

SUBMITTER: Gaignard P

PROVIDER: S-EPMC3738829 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature

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

Gaignard Pauline P Menezes Minal M Schiff Manuel M Bayot Aurélien A Rak Malgorzata M Ogier de Baulny Hélène H Su Chen-Hsien CH Gilleron Mylene M Lombes Anne A Abida Heni H Tzagoloff Alexander A Riley Lisa L Cooper Sandra T ST Mina Kym K Sivadorai Padma P Davis Mark R MR Allcock Richard J N RJ Kresoje Nina N Laing Nigel G NG Thorburn David R DR Slama Abdelhamid A Christodoulou John J Rustin Pierre P

American journal of human genetics 20130801 2

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 ...[more]

PMID: 23910460

Dataset Information

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

Publications

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

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