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

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

Autor Tengan, Célia Harumi Autor UNIFESP Google Scholar
Ferreiro-Barros, Claudia Cristina Autor UNIFESP Google Scholar
Cardeal, Marina Autor UNIFESP Google Scholar
Fireman, Moacir Antonio Tenorio Google Scholar
Oliveira, Acary Souza Bulle Autor UNIFESP Google Scholar
Kiyomoto, Beatriz Hitomi Autor UNIFESP Google Scholar
Gabbai, Alberto Alain Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Resumo 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.
Assunto mitochondria
mitochondrial DNA
mitochondrial disease
mtDNA duplication
free radical
Idioma Inglês
Data 2002-10-09
Publicado em Biochimica Et Biophysica Acta-molecular Basis of Disease. Amsterdam: Elsevier B.V., v. 1588, n. 1, p. 65-70, 2002.
ISSN 0925-4439 (Sherpa/Romeo, fator de impacto)
Editor Elsevier B.V.
Extensão 65-70
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000178746000009

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