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Publication year
2011Author(s)
Number of pages
5 p.
Source
European Journal of Human Genetics, 19, 3, (2011), pp. 270-274ISSN
Publication type
Article / Letter to editor

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Organization
Paediatrics - OUD tm 2017
Physiology
Laboratory of Genetic, Endocrine and Metabolic Diseases
Journal title
European Journal of Human Genetics
Volume
vol. 19
Issue
iss. 3
Languages used
English (eng)
Page start
p. 270
Page end
p. 274
Subject
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 motilityAbstract
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.
This item appears in the following Collection(s)
- Academic publications [202799]
- Electronic publications [100870]
- Faculty of Medical Sciences [80020]
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