Subject:
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IGMD 3: Genomic disorders and inherited multi-system disorders IGMD 3: Genomic disorders and inherited multi-system disorders NCMLS 4: Energy and redox metabolism IGMD 8: Mitochondrial medicine NCMLS 4: Energy and redox metabolism IGMD 9: Renal disorder NCMLS 4: Energy and redox metabolism IGMD 9: Renal disorder NCMLS 5: Membrane transport and intracellular motility NCMLS 5: Membrane transport and intracellular motility IGMD 9: Renal disorder IGMD 8: Mitochondrial medicine NCMLS 4: Energy and redox metabolism IGMD 9: Renal disorder NCMLS 5: Membrane transport and intracellular motility Tijdelijke code tbv inlezen publicaties Radboudumc - Alleen voor gebruik door Radboudumc |
Organization:
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Paediatrics - OUD tm 2017 Physiology Laboratory of Genetic, Endocrine and Metabolic Diseases |
Journal title:
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European Journal of Human Genetics
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Abstract:
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Mitochondrial complex I deficiency is the most common defect of the oxidative phosphorylation system. We report a patient with Leigh syndrome who showed a complex I deficiency expressed in cultured fibroblasts and muscle tissue. To find the genetic cause of the complex I deficiency, we screened the mitochondrial DNA and the nuclear-encoded subunits of complex I. We identified compound-heterozygous mutations in the NDUFA10 gene, encoding an accessory subunit of complex I. The first mutation disrupted the start codon and the second mutation resulted in an amino acid substitution. The fibroblasts of the patient displayed decreased amount and activity, and a disturbed assembly of complex I. These results indicate that NDUFA10 is a novel candidate gene to screen for disease-causing mutations in patients with complex I deficiency.
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