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metadata.dc.type: Artigo de Periódico
Issue Date: 2011
metadata.dc.creator: MARINHO, Anderson Nonato do Rosario
MORAES, Milene Raiol de
SANTOS, Sidney Emanuel Batista dos
SANTOS, Ândrea Kely Campos Ribeiro dos
Title: Human aging and somatic point mutations in mtDNA: a comparative study of generational differences (grandparents and grandchildren)
Citation: MARINHO, Anderson Nonato do Rosario, et al . Human aging and somatic point mutations in mtDNA: a comparative study of generational differences (grandparents and grandchildren). Genetics and Molecular Biology. São Paulo, v. 34, n. 1, p. 31-34, 2011. Epub 03 dez. 2010. Disponível em: <>. Acesso em: 29 jan. 2013. <>.
Abstract: The accumulation of somatic mutations in mtDNA is correlated with aging. In this work, we sought to identify somatic mutations in the HVS-1 region (D-loop) of mtDNA that might be associated with aging. For this, we compared 31 grandmothers (mean age: 63 ± 2.3 years) and their 62 grandchildren (mean age: 15 ± 4.1 years), the offspring of their daughters. Direct DNA sequencing showed that mutations absent in the grandchildren were detected in a presumably homoplasmic state in three grandmothers and in a heteroplasmic state in an additional 13 grandmothers; no mutations were detected in the remaining 15 grandmothers. However, cloning followed by DNA sequencing in 12 grandmothers confirmed homoplasia in only one of the three mutations previously considered to be homoplasmic and did not confirm heteroplasmy in three out of nine grandmothers found to be heteroplasmic by direct sequencing. Thus, of 12 grandmothers in whom mtDNA was analyzed by cloning, eight were heteroplasmic for mutations not detected in their grandchildren. In this study, the use of genetically related subjects allowed us to demonstrate the occurrence of age-related (> 60 years old) mutations (homoplasia and heteroplasmy). It is possible that both of these situations (homoplasia and heteroplasmy) were a long-term consequence of mitochondrial oxidative phosphorylation that can lead to the accumulation of mtDNA mutations throughout life.
Keywords: Envelhecimento
Mutação mitocondrial somática
ISSN: 1415-4757
metadata.dc.rights: Acesso Aberto
Appears in Collections:Artigos Científicos - ICB

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