| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
Maternal transmission of mitochondrial diseases
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| Autores: |
Chiaratti,Marcos R.
Macabelli,Carolina H.
Augusto Neto,José Djaci
Grejo,Mateus Priolo
Pandey,Anand Kumar
Perecin,Felipe
Collado,Maite del
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| Data: |
2020-01-01
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| Ano: |
2020
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| Palavras-chave: |
Oocyte
Germline
Mitochondrial dynamics
MtDNA
Metabolism
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| 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.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000200308
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/1678-4685-gmb-2019-0095
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.43 n.1 suppl.1 2020
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| Direitos: |
info:eu-repo/semantics/openAccess
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