Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions

Small duplications (miniduplications) of the D-loop of human mitochondrial DNA (mtDNA) have been described in patients with mtDNA deletions, mtDNA point mutations and in normal aged tissues. the origin of these miniduplications is still unknown but it is hypothesized that they could be formed after...

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Autores: Tengan, Célia Harumi [UNIFESP]., Ferreiro-Barros, Claudia Cristina [UNIFESP], Cardeal, Marina [UNIFESP], Fireman, Moacir Antonio Tenorio, Oliveira, Acary Souza Bulle [UNIFESP], Kiyomoto, Beatriz Hitomi [UNIFESP], Gabbai, Alberto Alain [UNIFESP]
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2002
País:Brasil
Recursos:Universidade Federal de São Paulo (UNIFESP)
Repositório:Repositório Institucional da UNIFESP
Idioma:inglês
OAI Identifier:oai:repositorio.unifesp.br:11600/27001
Acesso em linha:http://dx.doi.org/10.1016/S0925-4439(02)00140-0
http://repositorio.unifesp.br/handle/11600/27001
Access Level:Acceso aberto
Palavra-chave:mitochondria
mitochondrial DNA
aging
mitochondrial disease
mtDNA duplication
free radical
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spelling Frequency of duplications in the D-loop in patients with mitochondrial DNA deletionsmitochondriamitochondrial DNAagingmitochondrial diseasemtDNA duplicationfree radicalSmall duplications (miniduplications) of the D-loop of human mitochondrial DNA (mtDNA) have been described in patients with mtDNA deletions, mtDNA point mutations and in normal aged tissues. the origin of these miniduplications is still unknown but it is hypothesized that they could be formed after oxidative damage. the respiratory chain (RC) is the main source of free radicals in mitochondria and it is believed that a defect in RC increases free radical generation. If miniduplications are originated by oxidative damage, it is expected that they are more abundant in patients with a defect in the RC. We studied the frequency of miniduplications of D-loop in patients with a RC defect due to mtDNA deletions and in controls. We show that four types of miniduplications could be detected with a higher prevalence than in previous studies and that patients with mtDNA deletions did not have higher proportions or increased number of miniduplications, which is against the hypothesis that miniduplications are generated more abundantly in patients with RC defects. We also clearly demonstrate the age-related nature of these miniduplications by a carefully controlled study regarding the age of subjects, which was not considered in other studies on patients with a mitochondrial disease. (C) 2002 Elsevier Science B.V. All rights reserved.Universidade Federal de São Paulo, Escola Paulista Med, Disciplina Neurol Clin, Dept Neurol & Neurosurg,Div Neurol, BR-04039032 São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Disciplina Neurol Clin, Dept Neurol & Neurosurg,Div Neurol, BR-04039032 São Paulo, BrazilWeb of ScienceElsevier B.V.Universidade Federal de São Paulo (UNIFESP)2016-01-24T12:33:33Z2016-01-24T12:33:33Z2002-10-09info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion65-70application/pdfhttp://dx.doi.org/10.1016/S0925-4439(02)00140-0Biochimica Et Biophysica Acta-molecular Basis of Disease. Amsterdam: Elsevier B.V., v. 1588, n. 1, p. 65-70, 2002.10.1016/S0925-4439(02)00140-0WOS000178746000009.pdf0925-4439http://repositorio.unifesp.br/handle/11600/27001WOS:000178746000009ark:/48912/00130000202d3engBiochimica Et Biophysica Acta-molecular Basis of Diseaseinfo:eu-repo/semantics/openAccesshttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policyreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESPTengan, Célia Harumi [UNIFESP].Ferreiro-Barros, Claudia Cristina [UNIFESP]Cardeal, Marina [UNIFESP]Fireman, Moacir Antonio TenorioOliveira, Acary Souza Bulle [UNIFESP]Kiyomoto, Beatriz Hitomi [UNIFESP]Gabbai, Alberto Alain [UNIFESP]2024-08-07T09:55:42Zoai:repositorio.unifesp.br:11600/27001Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-08-07T09:55:42Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.none.fl_str_mv Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions
title Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions
spellingShingle Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions
Tengan, Célia Harumi [UNIFESP].
mitochondria
mitochondrial DNA
aging
mitochondrial disease
mtDNA duplication
free radical
title_short Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions
title_full Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions
title_fullStr Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions
title_full_unstemmed Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions
title_sort Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions
dc.creator.none.fl_str_mv Tengan, Célia Harumi [UNIFESP].
Ferreiro-Barros, Claudia Cristina [UNIFESP]
Cardeal, Marina [UNIFESP]
Fireman, Moacir Antonio Tenorio
Oliveira, Acary Souza Bulle [UNIFESP]
Kiyomoto, Beatriz Hitomi [UNIFESP]
Gabbai, Alberto Alain [UNIFESP]
author Tengan, Célia Harumi [UNIFESP].
author_facet Tengan, Célia Harumi [UNIFESP].
Ferreiro-Barros, Claudia Cristina [UNIFESP]
Cardeal, Marina [UNIFESP]
Fireman, Moacir Antonio Tenorio
Oliveira, Acary Souza Bulle [UNIFESP]
Kiyomoto, Beatriz Hitomi [UNIFESP]
Gabbai, Alberto Alain [UNIFESP]
author_role author
author2 Ferreiro-Barros, Claudia Cristina [UNIFESP]
Cardeal, Marina [UNIFESP]
Fireman, Moacir Antonio Tenorio
Oliveira, Acary Souza Bulle [UNIFESP]
Kiyomoto, Beatriz Hitomi [UNIFESP]
Gabbai, Alberto Alain [UNIFESP]
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade Federal de São Paulo (UNIFESP)
dc.subject.por.fl_str_mv mitochondria
mitochondrial DNA
aging
mitochondrial disease
mtDNA duplication
free radical
topic mitochondria
mitochondrial DNA
aging
mitochondrial disease
mtDNA duplication
free radical
description Small duplications (miniduplications) of the D-loop of human mitochondrial DNA (mtDNA) have been described in patients with mtDNA deletions, mtDNA point mutations and in normal aged tissues. the origin of these miniduplications is still unknown but it is hypothesized that they could be formed after oxidative damage. the respiratory chain (RC) is the main source of free radicals in mitochondria and it is believed that a defect in RC increases free radical generation. If miniduplications are originated by oxidative damage, it is expected that they are more abundant in patients with a defect in the RC. We studied the frequency of miniduplications of D-loop in patients with a RC defect due to mtDNA deletions and in controls. We show that four types of miniduplications could be detected with a higher prevalence than in previous studies and that patients with mtDNA deletions did not have higher proportions or increased number of miniduplications, which is against the hypothesis that miniduplications are generated more abundantly in patients with RC defects. We also clearly demonstrate the age-related nature of these miniduplications by a carefully controlled study regarding the age of subjects, which was not considered in other studies on patients with a mitochondrial disease. (C) 2002 Elsevier Science B.V. All rights reserved.
publishDate 2002
dc.date.none.fl_str_mv 2002-10-09
2016-01-24T12:33:33Z
2016-01-24T12:33:33Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1016/S0925-4439(02)00140-0
Biochimica Et Biophysica Acta-molecular Basis of Disease. Amsterdam: Elsevier B.V., v. 1588, n. 1, p. 65-70, 2002.
10.1016/S0925-4439(02)00140-0
WOS000178746000009.pdf
0925-4439
http://repositorio.unifesp.br/handle/11600/27001
WOS:000178746000009
dc.identifier.dark.fl_str_mv ark:/48912/00130000202d3
url http://dx.doi.org/10.1016/S0925-4439(02)00140-0
http://repositorio.unifesp.br/handle/11600/27001
identifier_str_mv Biochimica Et Biophysica Acta-molecular Basis of Disease. Amsterdam: Elsevier B.V., v. 1588, n. 1, p. 65-70, 2002.
10.1016/S0925-4439(02)00140-0
WOS000178746000009.pdf
0925-4439
WOS:000178746000009
ark:/48912/00130000202d3
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Biochimica Et Biophysica Acta-molecular Basis of Disease
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
http://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
eu_rights_str_mv openAccess
rights_invalid_str_mv http://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.format.none.fl_str_mv 65-70
application/pdf
dc.publisher.none.fl_str_mv Elsevier B.V.
publisher.none.fl_str_mv Elsevier B.V.
dc.source.none.fl_str_mv reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
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score 15.300719

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