The advances and new technologies for the study of mitochondrial diseases

Detalhes bibliográficos
Autor(a) principal: Bianco,Bianca
Data de Publicação: 2016
Outros Autores: Montagna,Erik
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Einstein (São Paulo)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082016000200024
Resumo: ABSTRACT Genetic mitochondrial disorders are responsible for the most common inborn errors of metabolism, caused by mutations in either nuclear genes or in mitochondrial DNA. This article presents the prokaryotic origin of the organelle and the relation between nuclear and mitochondrial genomes, as well as current evolutionary models for such mechanisms. It also addresses the structure of mitochondrial genes, their expression pattern, clinical features of gene defects, risk of transmission and current techniques to avoid these events in assisted human reproduction. Finally, it discusses the ethical implications of these possibilities.
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spelling The advances and new technologies for the study of mitochondrial diseasesMitochondriaDNA, mitochondrialMitochondrial diseasesPreimplantation diagnosisABSTRACT Genetic mitochondrial disorders are responsible for the most common inborn errors of metabolism, caused by mutations in either nuclear genes or in mitochondrial DNA. This article presents the prokaryotic origin of the organelle and the relation between nuclear and mitochondrial genomes, as well as current evolutionary models for such mechanisms. It also addresses the structure of mitochondrial genes, their expression pattern, clinical features of gene defects, risk of transmission and current techniques to avoid these events in assisted human reproduction. Finally, it discusses the ethical implications of these possibilities.Instituto Israelita de Ensino e Pesquisa Albert Einstein2016-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082016000200024einstein (São Paulo) v.14 n.2 2016reponame:Einstein (São Paulo)instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)instacron:IIEPAE10.1590/S1679-45082016MD3561info:eu-repo/semantics/openAccessBianco,BiancaMontagna,Erikeng2016-07-20T00:00:00Zoai:scielo:S1679-45082016000200024Revistahttps://journal.einstein.br/pt-br/ONGhttps://old.scielo.br/oai/scielo-oai.php||revista@einstein.br2317-63851679-4508opendoar:2016-07-20T00:00Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)false
dc.title.none.fl_str_mv The advances and new technologies for the study of mitochondrial diseases
title The advances and new technologies for the study of mitochondrial diseases
spellingShingle The advances and new technologies for the study of mitochondrial diseases
Bianco,Bianca
Mitochondria
DNA, mitochondrial
Mitochondrial diseases
Preimplantation diagnosis
title_short The advances and new technologies for the study of mitochondrial diseases
title_full The advances and new technologies for the study of mitochondrial diseases
title_fullStr The advances and new technologies for the study of mitochondrial diseases
title_full_unstemmed The advances and new technologies for the study of mitochondrial diseases
title_sort The advances and new technologies for the study of mitochondrial diseases
author Bianco,Bianca
author_facet Bianco,Bianca
Montagna,Erik
author_role author
author2 Montagna,Erik
author2_role author
dc.contributor.author.fl_str_mv Bianco,Bianca
Montagna,Erik
dc.subject.por.fl_str_mv Mitochondria
DNA, mitochondrial
Mitochondrial diseases
Preimplantation diagnosis
topic Mitochondria
DNA, mitochondrial
Mitochondrial diseases
Preimplantation diagnosis
description ABSTRACT Genetic mitochondrial disorders are responsible for the most common inborn errors of metabolism, caused by mutations in either nuclear genes or in mitochondrial DNA. This article presents the prokaryotic origin of the organelle and the relation between nuclear and mitochondrial genomes, as well as current evolutionary models for such mechanisms. It also addresses the structure of mitochondrial genes, their expression pattern, clinical features of gene defects, risk of transmission and current techniques to avoid these events in assisted human reproduction. Finally, it discusses the ethical implications of these possibilities.
publishDate 2016
dc.date.none.fl_str_mv 2016-06-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082016000200024
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082016000200024
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1679-45082016MD3561
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Instituto Israelita de Ensino e Pesquisa Albert Einstein
publisher.none.fl_str_mv Instituto Israelita de Ensino e Pesquisa Albert Einstein
dc.source.none.fl_str_mv einstein (São Paulo) v.14 n.2 2016
reponame:Einstein (São Paulo)
instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)
instacron:IIEPAE
instname_str Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)
instacron_str IIEPAE
institution IIEPAE
reponame_str Einstein (São Paulo)
collection Einstein (São Paulo)
repository.name.fl_str_mv Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)
repository.mail.fl_str_mv ||revista@einstein.br
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