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Titolo:
Functional characterization of novel mutations in the human cytochrome b gene
Autore:
Legros, F; Chatzoglou, E; Frachon, P; de Baulny, HO; Laforet, P; Jardel, C; Godinot, C; Lombes, A;
Indirizzi:
Hop La Pitie Salpetriere, Inst Myol, INSERM U523, F-75651 Paris 13, FranceHop La Pitie Salpetriere Paris France 13 U523, F-75651 Paris 13, France Hop La Pitie Salpetriere, F-75651 Paris, France Hop La Pitie Salpetriere Paris France F-75651 ere, F-75651 Paris, France Hop Robert Debre, F-75019 Paris, France Hop Robert Debre Paris France F-75019 obert Debre, F-75019 Paris, France Univ Cl Bernard, UMR5534, CGMC, Lyon 1, France Univ Cl Bernard Lyon France 1 Cl Bernard, UMR5534, CGMC, Lyon 1, France
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 7, volume: 9, anno: 2001,
pagine: 510 - 518
SICI:
1018-4813(200107)9:7<510:FCONMI>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY OPTIC NEUROPATHY; COMPLEX-III DEFICIENCY; HUMAN MITOCHONDRIAL GENOME; SACCHAROMYCES-CEREVISIAE; OXIDASE DEFICIENCY; EXERCISE INTOLERANCE; MISSENSE MUTATION; RESPIRATORY-CHAIN; C OXIDOREDUCTASE; LACTIC-ACIDOSIS;
Keywords:
mitochondrial DNA; cytochrome b; complex III; human; mitochondrial diseases;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
43
Recensione:
Indirizzi per estratti:
Indirizzo: Lombes, A Hop La Pitie Salpetriere, Inst Myol, INSERM U523, F-75651 Paris 13, France Hop La Pitie Salpetriere Paris France 13 5651 Paris 13, France
Citazione:
F. Legros et al., "Functional characterization of novel mutations in the human cytochrome b gene", EUR J HUM G, 9(7), 2001, pp. 510-518

Abstract

The great variability of the human mitochondrial DNA (mtDNA) sequence induces many difficulties in the search for its deleterious mutations. We illustrate-these pitfalls by the analysis of the cytochrome b gene of 21 patients affected with a mitochondrial disease. Eighteen different sequence variations were found, five of which were new mutations. Extensive analysis of the cytochrome b gene of 146 controls found 20 supplementary mutations, thus further demonstrating the high variability of the cytochrome b sequence. Wefully evaluated the functional relevance of 36 of these 38 mutations usingindirect criteria such as the nature of the mutation, its frequency in controls, or the phylogenetic conservation of the mutated amino acid. When appropriate, the mtDNA haplotype, the heteroplasmic state of the mutation, itstissue distribution or its familial transmission were also assessed. The molecular consequences of the mutations, which appeared possibly deleteriousin that first step of evaluation, were evaluated on the complex III enzymological properties and protein composition using specific antibodies that we have generated against four of its subunits. Two original deleterious mutations were found in the group of seven patients with overt complex III defect. Both mutations (G15150A (W135X) and T15197C (S151P)) were heteroplasmic and restricted to muscle. They had significant consequences on the complex III structure. In contrast, only two homoplasmic missense mutations with dubious clinical relevance were found in the patients without overt complexIII defect.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 15:40:02