Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid

Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid

Autor Tengan, Célia Harumi Autor UNIFESP Google Scholar
Kiyomoto, Beatriz Hitomi Autor UNIFESP Google Scholar
Rocha, M. S. Google Scholar
Tavares, VLS Google Scholar
Gabbai, Alberto Alain Autor UNIFESP Google Scholar
Moraes, C. T. Google Scholar
Instituição Univ Miami
Universidade Federal de São Paulo (UNIFESP)
CS Santa Marcelina
Resumo Diabetes mellitus is the most frequent endocrinopathy associated with mitochondrial disorders, particularly in patients with duplications of mitochondrial DNA (mtDNA). Although hypoparathyroidism has also been described in mitochondrial diseases, there have been few molecular studies in these cases, most of which identified the presence of single mtDNA deletions in the patients' tissues. We studied muscle DNA of a 12-yr-old patient with incomplete Kearns-Sayre syndrome and hypoparathyroidism. Southern analysis showed that muscle DNA contained three populations of mtDNA: wild type (26%), deleted (65%), and duplicated (9%). To determine the sequence of the breakpoint region from deleted and duplicated mtDNA independently, we isolated the deleted and duplicated mtDNA by gel fractionation of a PstI-digested total DNA. the breakpoint was located at mtDNA positions 5788 and 15448 for both duplicated and deleted molecules. Our study reinforces the concept that endocrinopathies other than diabetes can be associated with a duplication of mtDNA and gives additional support to the hypothesis that the duplication and deletion of mtDNA are generated from the same recombination event.
Idioma Inglês
Data de publicação 1998-01-01
Publicado em Journal of Clinical Endocrinology & Metabolism. Chevy Chase: Endocrine Soc, v. 83, n. 1, p. 125-129, 1998.
ISSN 0021-972X (Sherpa/Romeo, fator de impacto)
Publicador Endocrine Soc
Extensão 125-129
Fonte http://dx.doi.org/10.1210/jcem.83.1.4497
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000071270600023
Endereço permanente http://repositorio.unifesp.br/handle/11600/25835

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