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NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease
- Source :
- European Journal of Human Genetics, 19(3), 270-274. Nature Publishing Group, European Journal of Human Genetics, 19, 3, pp. 270-4, European Journal of Human Genetics, 19, 270-4
- Publication Year :
- 2011
-
Abstract
- 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. European Journal of Human Genetics (2011) 19, 270-274; doi:10.1038/ejhg.2010.204; published online 8 December 2010
- Subjects :
- Male
Candidate gene
Mitochondrial Diseases
MITOCHONDRIAL COMPLEX
Mitochondrion
medicine.disease_cause
Oxidative Phosphorylation
NDUFA10
UBIQUINONE OXIDOREDUCTASE
OXIDATIVE-PHOSPHORYLATION
complex I deficiency
Cells, Cultured
Genetics (clinical)
Genetics
Mutation
Mitochondrial medicine Energy and redox metabolism [IGMD 8]
SUBUNITS
Mitochondria
Renal disorder Membrane transport and intracellular motility [IGMD 9]
Electron Transport Complex I
Leigh Disease
Heterozygote
Mitochondrial DNA
NDUFA10 gene
Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3]
Biology
DNA, Mitochondrial
Renal disorder Energy and redox metabolism [IGMD 9]
ELECTROPHORESIS
Article
Genomic disorders and inherited multi-system disorders [IGMD 3]
medicine
Humans
Leigh disease
Gene
Cell Nucleus
IDENTIFICATION
SUBCOMPLEXES
Infant
NADH Dehydrogenase
medicine.disease
Leigh syndrome
GENE
PATHOLOGY
Membrane transport and intracellular motility Renal disorder [NCMLS 5]
Amino Acid Substitution
NADH
Subjects
Details
- Language :
- English
- ISSN :
- 10184813
- Database :
- OpenAIRE
- Journal :
- European Journal of Human Genetics, 19(3), 270-274. Nature Publishing Group, European Journal of Human Genetics, 19, 3, pp. 270-4, European Journal of Human Genetics, 19, 270-4
- Accession number :
- edsair.doi.dedup.....42d0cae3ad1d76e7dcd8fcb2e65d1629