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C6ORF66 is an assembly factor of mitochondrial complex I |
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| Authors: | Saada Ann Edvardson Simon Rapoport Matan Shaag Avraham Amry Khaled Miller Chaya Lorberboum-Galski Haya Elpeleg Orly |
| Institution: | 1 Metabolic Disease Unit and, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel 2 Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel 3 The Palestinian Medical Relief Society, Al-Bireh, PMRS Building, Ramallah 4 Department of Cellular Biochemistry and Human Genetics, School of Medicine, Hebrew University, Jerusalem, Israel |
| Abstract: | Homozygosity mapping was performed in five patients from a consanguineous family who presented with infantile mitochondrial encephalomyopathy attributed to isolated NADH:ubiquinone oxidoreductase (complex I) deficiency. This resulted in the identification of a missense mutation in a conserved residue of the C6ORF66 gene, which encodes a 20.2 kDa mitochondrial protein. The mutation was also detected in a patient who presented with antenatal cardiomyopathy. In muscle of two patients, the levels of the C6ORF66 protein and of the fully assembled complex I were markedly reduced. Transfection of the patients' fibroblasts with wild-type C6ORF66 cDNA restored complex I activity. These data suggest that C6ORF66 is an assembly factor of complex I. Interestingly, the C6ORF66 gene product was previously shown to promote breast cancer cell invasiveness. |
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