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Título

m.6267G > A: A recurrent mutation in the human mitochondrial DNA that reduces cytochrome C oxidase activity and is associated with tumors

Autor Gallardo, M. Esther ; Moreno-Loshuertos, Raquel; López, Cecilia I.; Casqueiro, Mercedes; Silva, Javier; Bonilla, Félix; Rodríguez de Córdoba, Santiago ; Enríquez, José Antonio
Palabras clave Mitochondrial DNA,
mtDNA
Mutation
OXPHOS
COX
Cancer
Fecha de publicación 2006
EditorWiley-Blackwell
Citación Human Mutation 27(6):575-582(2006)
ResumenComplete sequencing of the mitochondrial genome of 13 cell lines derived from a variety of human cancers revealed nine novel mitochondrial DNA (mtDNA) variations. One of them, m.6267G > A, is a recurrent mutation that introduces the Ala122Thr substitution in the mitochondrially encoded cytochrome c oxidase I (MT-CO1): p.MT-CO1: Ala122Thr (GenBank: NP_536845.1). Biochemical analysis of the original cell lines and the transmitochondrial cybrids generated by transferring mitochondrial DNAs to a common nuclear background, indicate that cytochrome c oxidase (COX) activity, respiration, and growth in galactose are impaired by the m.6267G > A mutation. This mutation, found twice in the cancer cell lines included in this study, has been also encountered in one out of 63 breast cancer samples, one out of 64 colon cancer samples, one out of 260 prostate cancer samples, and in one out of 15 pancreatic cancer cell lines. In all instances the m.6267G > A mutation was associated to different mtDNA haplogroups. These findings, contrast with the extremely low frequency of the m.6267G > A mutation in the normal population (1:2264) and its apparent absence in other pathologies, strongly suggesting that the m.6267G > A missense mutation is a recurrent mutation specifically associated with cancer. © 2006 Wiley-Liss, Inc.
Descripción 41 p.-1 tab.-2 tab. supl.
Versión del editorhttp://dx.doi.org/10.1002/humu.20338
URI http://hdl.handle.net/10261/69139
DOI10.1002/humu.20338
ISSN1059-7794
E-ISSN1098-1004
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