Consulta: creatorFacets:"Chiaratti,Marcos R."
Registros recuperados: 1
Data/hora: 10/06/2024 02:57:05

Maternal transmission of mitochondrial diseases
Provedor de dados: 74
Autores: Chiaratti,Marcos R.; Macabelli,Carolina H.; Augusto Neto,José Djaci; Grejo,Mateus Priolo; Pandey,Anand Kumar; Perecin,Felipe; Collado,Maite del.
Abstract Given the major role of the mitochondrion in cellular homeostasis, dysfunctions of this organelle may lead to several common diseases in humans. Among these, maternal diseases linked to mitochondrial DNA (mtDNA) mutations are of special interest due to the unclear pattern of mitochondrial inheritance. Multiple copies of mtDNA are present in a cell, each encoding for 37 genes essential for mitochondrial function. In cases of mtDNA mutations, mitochondrial malfunctioning relies on mutation load, as mutant and wild-type molecules may co-exist within the cell. Since the mutation load associated with disease manifestation varies for different mutations and tissues, it is hard to predict the progeny phenotype based on mutation load in the progenitor. In...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Oocyte; Germline; Mitochondrial dynamics; MtDNA; Metabolism.
Ano: 2020
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000200308