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Publication year
2010Source
Molecular Genetics and Metabolism, 100, 3, (2010), pp. 251-6ISSN
Annotation
01 juli 2010
Publication type
Article / Letter to editor
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Organization
Paediatrics - OUD tm 2017
Laboratory of Genetic, Endocrine and Metabolic Diseases
Journal title
Molecular Genetics and Metabolism
Volume
vol. 100
Issue
iss. 3
Page start
p. 251
Page end
p. 6
Subject
IGMD 8: Mitochondrial medicine; IGMD 9: Renal disorder; NCMLS 4: Energy and redox metabolismAbstract
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.
This item appears in the following Collection(s)
- Academic publications [238586]
- Electronic publications [122817]
- Faculty of Medical Sciences [90409]
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