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The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain.
Oostra, R J; Van Galen, M J; Bolhuis, P A; Bleeker-Wagemakers, E M; Van den Bogert, C.
Afiliação
  • Oostra RJ; Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam.
Biochem Biophys Res Commun ; 215(3): 1001-5, 1995 Oct 24.
Article em En | MEDLINE | ID: mdl-7488023
The electron transfer activity of Complex I of the respiratory chain and Complex I-linked ATP synthesis were investigated in leukocytes of four males affected by Leber hereditary optic neuropathy and a mutation in the ND6 gene at nucleotide position 14,484 of mtDNA. The electron transfer activity in leukocytes of the patients was about 35% of that in control leukocytes, whereas the Complex I-linked ATP synthesis showed a decrease of only about 20%. This demonstrates that all three mtDNA mutations that are clearly associated with Leber hereditary optic neuropathy result in deficiency of Complex I. However, the relationship between these mtDNA mutations, the function of Complex I and the phenotypic profile remains elusive.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Atrofias Ópticas Hereditárias / NAD(P)H Desidrogenase (Quinona) / Mutação Puntual / Triagem de Portadores Genéticos Tipo de estudo: Risk_factors_studies Limite: Humans / Male Idioma: En Revista: Biochem Biophys Res Commun Ano de publicação: 1995 Tipo de documento: Article País de publicação: Estados Unidos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Atrofias Ópticas Hereditárias / NAD(P)H Desidrogenase (Quinona) / Mutação Puntual / Triagem de Portadores Genéticos Tipo de estudo: Risk_factors_studies Limite: Humans / Male Idioma: En Revista: Biochem Biophys Res Commun Ano de publicação: 1995 Tipo de documento: Article País de publicação: Estados Unidos