Data/hora: 09/06/2024 05:23:06

Provedor de dados: | Genetics and Molecular Biology
País: | Brazil
Título: | Maternal transmission of mitochondrial diseases
Autores: | Chiaratti,Marcos R.; Macabelli,Carolina H.; Augusto Neto,José Djaci; Grejo,Mateus Priolo; Pandey,Anand Kumar; Perecin,Felipe; Collado,Maite del.
Data: | 2020-01-01
Ano: | 2020
Palavras-chave: | Oocyte; Germline; Mitochondrial dynamics; MtDNA; Metabolism.
Resumo: | 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 addition, poorly understood mechanisms act in the female germline to prevent the accumulation of deleterious mtDNA in the following generations. In this review, we outline basic aspects of mitochondrial inheritance in mammals and how they may lead to maternally-inherited diseases. Furthermore, we discuss potential therapeutic strategies for these diseases, which may be used in the future to prevent their transmission.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000200308
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/1678-4685-gmb-2019-0095
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.43 n.1 suppl.1 2020
Fonte: | info:eu-repo/semantics/openAccess