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

41 p.-1 tab.-2 tab. supl.

Detalhes bibliográficos
Autores: Gallardo, M. Esther, Moreno-Loshuertos, Raquel, López, Cecilia I., Casqueiro, Mercedes, Silva, Javier, Bonilla, Félix, Rodríguez de Córdoba, Santiago, Enríquez, José Antonio
Formato: artículo
Fecha de publicación:2006
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/69139
Acesso em linha:http://hdl.handle.net/10261/69139
Access Level:acceso abierto
Palavra-chave:Mitochondrial DNA,
mtDNA
Mutation
OXPHOS
COX
Cancer
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repository_id_str
spelling m.6267G > A: A recurrent mutation in the human mitochondrial DNA that reduces cytochrome C oxidase activity and is associated with tumorsGallardo, M. EstherMoreno-Loshuertos, RaquelLópez, Cecilia I.Casqueiro, MercedesSilva, JavierBonilla, FélixRodríguez de Córdoba, SantiagoEnríquez, José AntonioMitochondrial DNA,mtDNAMutationOXPHOSCOXCancer41 p.-1 tab.-2 tab. supl.Complete 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.C.L. and R.M.L-H. are supported by a predoctoral fellowship from the Spanish Ministerio de Educacio´n y Ciencia and M.E.G. is supported by a postdoctoral contract from the Comunidad Autonoma de MadridPeer ReviewedWiley-Blackwell20062013info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501http://hdl.handle.net/10261/69139reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttp://dx.doi.org/10.1002/humu.20338info:eu-repo/semantics/openAccessoai:digital.csic.es:10261/691392026-05-22T06:33:51Z
dc.title.none.fl_str_mv m.6267G > A: A recurrent mutation in the human mitochondrial DNA that reduces cytochrome C oxidase activity and is associated with tumors
title m.6267G > A: A recurrent mutation in the human mitochondrial DNA that reduces cytochrome C oxidase activity and is associated with tumors
spellingShingle m.6267G > A: A recurrent mutation in the human mitochondrial DNA that reduces cytochrome C oxidase activity and is associated with tumors
Gallardo, M. Esther
Mitochondrial DNA,
mtDNA
Mutation
OXPHOS
COX
Cancer
title_short m.6267G > A: A recurrent mutation in the human mitochondrial DNA that reduces cytochrome C oxidase activity and is associated with tumors
title_full m.6267G > A: A recurrent mutation in the human mitochondrial DNA that reduces cytochrome C oxidase activity and is associated with tumors
title_fullStr m.6267G > A: A recurrent mutation in the human mitochondrial DNA that reduces cytochrome C oxidase activity and is associated with tumors
title_full_unstemmed m.6267G > A: A recurrent mutation in the human mitochondrial DNA that reduces cytochrome C oxidase activity and is associated with tumors
title_sort m.6267G > A: A recurrent mutation in the human mitochondrial DNA that reduces cytochrome C oxidase activity and is associated with tumors
dc.creator.none.fl_str_mv Gallardo, M. Esther
Moreno-Loshuertos, Raquel
López, Cecilia I.
Casqueiro, Mercedes
Silva, Javier
Bonilla, Félix
Rodríguez de Córdoba, Santiago
Enríquez, José Antonio
author Gallardo, M. Esther
author_facet Gallardo, M. Esther
Moreno-Loshuertos, Raquel
López, Cecilia I.
Casqueiro, Mercedes
Silva, Javier
Bonilla, Félix
Rodríguez de Córdoba, Santiago
Enríquez, José Antonio
author_role author
author2 Moreno-Loshuertos, Raquel
López, Cecilia I.
Casqueiro, Mercedes
Silva, Javier
Bonilla, Félix
Rodríguez de Córdoba, Santiago
Enríquez, José Antonio
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Mitochondrial DNA,
mtDNA
Mutation
OXPHOS
COX
Cancer
topic Mitochondrial DNA,
mtDNA
Mutation
OXPHOS
COX
Cancer
description 41 p.-1 tab.-2 tab. supl.
publishDate 2006
dc.date.none.fl_str_mv 2006
2013
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/69139
url http://hdl.handle.net/10261/69139
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv http://dx.doi.org/10.1002/humu.20338
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Wiley-Blackwell
publisher.none.fl_str_mv Wiley-Blackwell
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812429

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