A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis
| Autor: | Sandrine Haut, Pierre Rustin, Audrey Boutron, Angela Garcia-Cazorla, Sophie Lebon, Alain Legrand, Abdelhamid Slama, Michèle Brivet, Guy Touati, Jean-Marie Saudubray |
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| Rok vydání: | 2003 |
| Předmět: |
BCS1L
Protein subunit Molecular Sequence Data Biology medicine.disease_cause Electron Transport Complex III Genetics medicine Humans Amino Acid Sequence Lymphocytes Peptide sequence Genetics (clinical) Skin Mutation Cytochrome b Infant Fibroblasts Cytochrome b Group Mitochondrial respiratory chain complex III Molecular biology Hypoglycemia Mitochondria UQCRB Cold Temperature Biochemistry Coenzyme Q – cytochrome c reductase Hepatocytes Acidosis Lactic Female Carrier Proteins Gene Deletion |
| Zdroj: | Human Genetics. 113:118-122 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s00439-003-0946-0 |
| Popis: | Mitochondrial respiratory chain complex III (ubiquinol-cytochrome c reductase) consists of 11 subunits, only one (cytochrome b) being encoded by the mitochondrial DNA. Disorders of complex III are comparatively rare but are nevertheless present as a clinically heterogeneous group of diseases. To date, no mutation in any of the nuclear-encoded subunits has been described. We report here a deletion in the nuclear gene UQCRB encoding the human ubiquinone-binding protein of complex III (QP-C subunit or subunit VII) in a consanguineous family with an isolated complex III defect. In the proband, a homozygous 4-bp deletion was identified at nucleotides 338-341 of the cDNA predicting both a change in the last seven amino acids and an addition of a stretch of 14 amino acids at the C-terminal end of the protein. Both parents were found to be heterozygous for the deletion, which was absent from 55 controls. Low temperature (-196 degrees C) spectral studies performed on isolated mitochondria from cultured skin fibroblast of the proband showed a decreased cytochrome b content suggestive of a role for the QP-C subunit in the assembly or maintenance of complex III structure. |
| Databáze: | OpenAIRE |
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