Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies
Copyright policy )Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies
Mitochondrial complex I deficiency is the most frequently encountered defect of the oxidative phosphorylation system. To identify the genetic cause of the complex I deficiency, we screened the gene encoding the NDUFS1 subunit. We report 3 patients with low residual complex I activity expressed in cultured fibroblasts, which displayed novel mutations in the NDUFS1 gene. One mutation introduces a premature stop codon, 3 mutations cause a substitution of amino acids and another mutation a deletion of one amino acid. The fibroblasts of the patients display a decreased amount and activity of complex I. In addition, a disturbed assembly pattern was observed. These results suggest that NDUFS1 is a prime candidate to screen for disease-causing mutations in patients with a very low residual complex I activity in cultured fibroblasts.
- Radboud University Nijmegen Netherlands
- Boston Children's Hospital United States
- Radboud University Nijmegen Medical Centre Netherlands
- University Hospital Cologne Germany
- Universitätskinderklinik Germany
Male, Mitochondrial Diseases, DNA Mutational Analysis, Humans, Amino Acid Sequence, Child, Cells, Cultured, Sequence Deletion, Electron Transport Complex I, Base Sequence, IGMD 9: Renal disorder, Brain, Infant, NADH Dehydrogenase, Fibroblasts, Magnetic Resonance Imaging, Laboratory Medicine - Radboud University Medical Center, Amino Acid Substitution, Codon, Nonsense, Child, Preschool, Mutation, NCMLS 4: Energy and redox metabolism, Female, IGMD 8: Mitochondrial medicine
Male, Mitochondrial Diseases, DNA Mutational Analysis, Humans, Amino Acid Sequence, Child, Cells, Cultured, Sequence Deletion, Electron Transport Complex I, Base Sequence, IGMD 9: Renal disorder, Brain, Infant, NADH Dehydrogenase, Fibroblasts, Magnetic Resonance Imaging, Laboratory Medicine - Radboud University Medical Center, Amino Acid Substitution, Codon, Nonsense, Child, Preschool, Mutation, NCMLS 4: Energy and redox metabolism, Female, IGMD 8: Mitochondrial medicine
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