Maternal transmission of mitochondrial diseases
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 i...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2020-03-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000200308&tlng=en |
| _version_ | 1818975192566726656 |
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| author | Marcos R. Chiaratti Carolina H. Macabelli José Djaci Augusto Neto Mateus Priolo Grejo Anand Kumar Pandey Felipe Perecin Maite del Collado |
| author_facet | Marcos R. Chiaratti Carolina H. Macabelli José Djaci Augusto Neto Mateus Priolo Grejo Anand Kumar Pandey Felipe Perecin Maite del Collado |
| author_sort | Marcos R. Chiaratti |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-20T15:52:03Z |
| format | Article |
| id | doaj.art-b5b81bcadb2d4e77aa95c64862f360e8 |
| institution | Directory Open Access Journal |
| issn | 1678-4685 |
| language | English |
| last_indexed | 2024-12-20T15:52:03Z |
| publishDate | 2020-03-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-b5b81bcadb2d4e77aa95c64862f360e82022-12-21T19:34:38ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852020-03-01431 suppl 110.1590/1678-4685-gmb-2019-0095Maternal transmission of mitochondrial diseasesMarcos R. Chiarattihttps://orcid.org/0000-0001-8805-9469Carolina H. MacabelliJosé Djaci Augusto NetoMateus Priolo GrejoAnand Kumar PandeyFelipe PerecinMaite del ColladoAbstract 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000200308&tlng=enOocytegermlinemitochondrial dynamicsmtDNAmetabolism |
| spellingShingle | Marcos R. Chiaratti Carolina H. Macabelli José Djaci Augusto Neto Mateus Priolo Grejo Anand Kumar Pandey Felipe Perecin Maite del Collado Maternal transmission of mitochondrial diseases Genetics and Molecular Biology Oocyte germline mitochondrial dynamics mtDNA metabolism |
| title | Maternal transmission of mitochondrial diseases |
| title_full | Maternal transmission of mitochondrial diseases |
| title_fullStr | Maternal transmission of mitochondrial diseases |
| title_full_unstemmed | Maternal transmission of mitochondrial diseases |
| title_short | Maternal transmission of mitochondrial diseases |
| title_sort | maternal transmission of mitochondrial diseases |
| topic | Oocyte germline mitochondrial dynamics mtDNA metabolism |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000200308&tlng=en |
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