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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Role of mitochondrial dysfunction in the pathophysiology of DNA repair disorders

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Autor(es):
Mori, Mateus Prates [1] ; de Souza-Pinto, Nadja Cristhina [1]
Número total de Autores: 2
Afiliação do(s) autor(es):
[1] Univ Sao Paulo, Inst Quim, Dept Bioquim, Sao Paulo, SP - Brazil
Número total de Afiliações: 1
Tipo de documento: Artigo de Revisão
Fonte: Cell Biology International; v. 42, n. 6, SI, p. 643-650, JUN 2018.
Citações Web of Science: 5
Resumo

DNA is constantly being damaged, either by endogenous or exogenous genotoxins. In that regard, DNA repair activities are essential for maintaining genomic stability and to life itself. Mutations in genes encoding DNA repair proteins cause severe human syndromes, but DNA repair defects have also been linked to several other diseases, notably to cancer and normal aging. Recently, new evidence has emerged indicating that some DNA repair diseases display mitochondrial and metabolic dysfunction through mechanisms that are yet being uncovered. These results suggest that mitochondria play an import role in the DNA damage response pathways and that damage accumulation may lead to mitochondrial dysfunction via metabolic imbalance and mitophagy impairment. Here we review the recent findings linking mitochondrial impairment and cell death to DNA damage accumulation in the context of DNA repair defects. In addition, the general involvement of DNA damage in cellular dysfunction suggests that these phenomena may be also involved in other human pathologies in which mitochondrial dysfunction and metabolic disruption play causative roles. (AU)

Processo FAPESP: 17/04372-0 - DNA mitocondrial: mecanismos de manutenção de sua estabilidade e impacto em doenças
Beneficiário:Nadja Cristhina de Souza Pinto
Linha de fomento: Auxílio à Pesquisa - Temático
Processo FAPESP: 16/15407-7 - Investigação do papel da mutação TG no gene XPC na expressão do coativador transcricional PGC-1a
Beneficiário:Mateus Prates Mori
Linha de fomento: Bolsas no Brasil - Pós-Doutorado