A new human mtDNA polymorphism: MTND6: 14562 (C-->T). (Articolo in rivista)

Type
Label
  • A new human mtDNA polymorphism: MTND6: 14562 (C-->T). (Articolo in rivista) (literal)
Anno
  • 2001-01-01T00:00:00+01:00 (literal)
Alternative label
  • Cittadella R, 1;Andreoli V,1; Manna I,1; Oliveri RL,1-2; Quattrone A. 1-2 (2001)
    A new human mtDNA polymorphism: MTND6: 14562 (C-->T).
    in Human mutation
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Cittadella R, 1;Andreoli V,1; Manna I,1; Oliveri RL,1-2; Quattrone A. 1-2 (literal)
Pagina inizio
  • 238 (literal)
Pagina fine
  • - (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 17 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • In this study, we describe a new genetic variant in mitochondrial DNA (mtDNA) at position 14562 C-->T at ND6 subunit of the complex I of the respiratory chain, in a patient affected with multiple sclerosis. (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1, Institute of Experimental Medicine and Biotechnology, National Research Council, Piano Lago di Mangone - Cosenza (ora ISN) 2, Institute of Neurology, School of Medicine Catanzaro (literal)
Titolo
  • A new human mtDNA polymorphism: MTND6: 14562 (C-->T). (literal)
Abstract
  • ND1-ND6 are seven subunits of the NADH CoQ reductase or complex I of the respiratory chain. They are encoded by mitochondrial DNA and involved in the oxidative phosphorylation (OXPHOS) pathway. We observed a new genetic polymorphism in human mitochondrial DNA (mtDNA) caused by a variation of the base pair (bp) at position 14562, which is located in the gene for mitochondrial ND6 (Anderson et al.1981). The variant is a C-->NT transition which creates one new restriction site: Mbo I, leading to Valine substitution for Isoleucine. This polymorphism was observed in a patient, during a screening study for primary LHON mutations with multiple sclerosis (Kellar-Wood et al. 1994). The molecular analysis of other asymptomatic members of proband's family confirmed the same nucleotide variation. The primary LHON mutations at nucleotides 11778, 3460 and 14484 (Howell et al. 1995) were not present in this patient. We performed a mutational analysis in fifty normal subjects from the same geographic background, but this polymorphism was not detected. Thus, this novel nucleotide transition is a neutral polymorphism. (literal)
Prodotto di
Autore CNR
Insieme di parole chiave

Incoming links:


Autore CNR di
Prodotto
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
Insieme di parole chiave di
data.CNR.it