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

dc.contributor.authorTengan, Célia Harumi [UNIFESP].
dc.contributor.authorFerreiro-Barros, Claudia Cristina [UNIFESP]
dc.contributor.authorCardeal, Marina [UNIFESP]
dc.contributor.authorFireman, Moacir Antonio Tenorio
dc.contributor.authorOliveira, Acary Souza Bulle [UNIFESP]
dc.contributor.authorKiyomoto, Beatriz Hitomi [UNIFESP]
dc.contributor.authorGabbai, Alberto Alain [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T12:33:33Z
dc.date.available2016-01-24T12:33:33Z
dc.date.issued2002-10-09
dc.description.abstractSmall 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.en
dc.description.affiliationUniversidade Federal de São Paulo, Escola Paulista Med, Disciplina Neurol Clin, Dept Neurol & Neurosurg,Div Neurol, BR-04039032 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Escola Paulista Med, Disciplina Neurol Clin, Dept Neurol & Neurosurg,Div Neurol, BR-04039032 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent65-70
dc.identifierhttp://dx.doi.org/10.1016/S0925-4439(02)00140-0
dc.identifier.citationBiochimica Et Biophysica Acta-molecular Basis of Disease. Amsterdam: Elsevier B.V., v. 1588, n. 1, p. 65-70, 2002.
dc.identifier.doi10.1016/S0925-4439(02)00140-0
dc.identifier.fileWOS000178746000009.pdf
dc.identifier.issn0925-4439
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/27001
dc.identifier.wosWOS:000178746000009
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofBiochimica Et Biophysica Acta-molecular Basis of Disease
dc.rightsAcesso aberto
dc.rights.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.subjectmitochondriaen
dc.subjectmitochondrial DNAen
dc.subjectagingen
dc.subjectmitochondrial diseaseen
dc.subjectmtDNA duplicationen
dc.subjectfree radicalen
dc.titleFrequency of duplications in the D-loop in patients with mitochondrial DNA deletionsen
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