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

      American Journal of Human Genetics

      Amino Acid Sequence, pathology, enzymology, Skin, metabolism, genetics, Saccharomyces cerevisiae Proteins, Saccharomyces cerevisiae, Protein Subunits, Mutation, Molecular Sequence Data, Models, Molecular, Mitochondria, Male, physiopathology, Child, Preschool, drug therapy, Ketosis, Iron-Sulfur Proteins, pharmacology, Insulin, Hyperglycemia, Humans, Genetic Complementation Test, Fibroblasts, Female, Electron Transport, Cytochromes c1, Cytochromes c, Consanguinity

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          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. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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          Author and article information

          Journal
          10.1016/j.ajhg.2013.06.015
          3738829
          23910460

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