Syndromes associated with mitochondrial DNA depletion

Detalhes bibliográficos
Autor(a) principal: Nogueira, Célia
Data de Publicação: 2014
Outros Autores: Almeida, Ligia S., Nesti, C., Pezzini, I., Videira, A., Vilarinh, Laura, Santorelli, F.M.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/2817
Resumo: This is an Open Access article distributed under the terms of the Creative Commons Attribution License.
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spelling Syndromes associated with mitochondrial DNA depletionDoenças GenéticasMitochondrial DNA Depletion SyndromeMitochondrial MyopathyMitochondrial EncephalomyopathyHepatocerebral SyndromemtDNAOxPhosAlpers-Huttenlocher SyndromeThis is an Open Access article distributed under the terms of the Creative Commons Attribution License.Mitochondrial dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) and, consequently, deficient energy production. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the mitochondrial or the nuclear genome, or in the cross-talk between the two. This impaired cross-talk gives rise to so-called nuclear-mitochondrial intergenomic communication disorders, which result in loss or instability of the mitochondrial genome and, in turn, impaired maintenance of qualitative and quantitative mtDNA integrity. In children, most MRC disorders are associated with nuclear gene defects rather than alterations in the mtDNA itself.The mitochondrial DNA depletion syndromes (MDSs) are a clinically heterogeneous group of disorders with an autosomal recessive pattern of transmission that have onset in infancy or early childhood and are characterized by a reduced number of copies of mtDNA in affected tissues and organs. The MDSs can be divided into least four clinical presentations: hepatocerebral, myopathic, encephalomyopathic and neurogastrointestinal. The focus of this review is to offer an overview of these syndromes, listing the clinical phenotypes, together with their relative frequency, mutational spectrum, and possible insights for improving diagnostic strategies.CN was supported by the Portuguese Foundation for Science and Technology (SFRH/BD/45247/2008). LSA was supported by the Portuguese Foundation for Science and Technology (FCT C2008/INSA/P4).BioMed Central/ Italian Society of PediatricsRepositório Científico do Instituto Nacional de SaúdeNogueira, CéliaAlmeida, Ligia S.Nesti, C.Pezzini, I.Videira, A.Vilarinh, LauraSantorelli, F.M.2015-02-09T13:06:02Z2014-04-032014-04-03T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/2817engItal J Pediatr. 2014 Apr 3;40:34. doi: 10.1186/1824-7288-40-34. Review1720-842410.1186/1824-7288-40-34info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:39:29Zoai:repositorio.insa.pt:10400.18/2817Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:37:50.023379Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Syndromes associated with mitochondrial DNA depletion
title Syndromes associated with mitochondrial DNA depletion
spellingShingle Syndromes associated with mitochondrial DNA depletion
Nogueira, Célia
Doenças Genéticas
Mitochondrial DNA Depletion Syndrome
Mitochondrial Myopathy
Mitochondrial Encephalomyopathy
Hepatocerebral Syndrome
mtDNA
OxPhos
Alpers-Huttenlocher Syndrome
title_short Syndromes associated with mitochondrial DNA depletion
title_full Syndromes associated with mitochondrial DNA depletion
title_fullStr Syndromes associated with mitochondrial DNA depletion
title_full_unstemmed Syndromes associated with mitochondrial DNA depletion
title_sort Syndromes associated with mitochondrial DNA depletion
author Nogueira, Célia
author_facet Nogueira, Célia
Almeida, Ligia S.
Nesti, C.
Pezzini, I.
Videira, A.
Vilarinh, Laura
Santorelli, F.M.
author_role author
author2 Almeida, Ligia S.
Nesti, C.
Pezzini, I.
Videira, A.
Vilarinh, Laura
Santorelli, F.M.
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Nogueira, Célia
Almeida, Ligia S.
Nesti, C.
Pezzini, I.
Videira, A.
Vilarinh, Laura
Santorelli, F.M.
dc.subject.por.fl_str_mv Doenças Genéticas
Mitochondrial DNA Depletion Syndrome
Mitochondrial Myopathy
Mitochondrial Encephalomyopathy
Hepatocerebral Syndrome
mtDNA
OxPhos
Alpers-Huttenlocher Syndrome
topic Doenças Genéticas
Mitochondrial DNA Depletion Syndrome
Mitochondrial Myopathy
Mitochondrial Encephalomyopathy
Hepatocerebral Syndrome
mtDNA
OxPhos
Alpers-Huttenlocher Syndrome
description This is an Open Access article distributed under the terms of the Creative Commons Attribution License.
publishDate 2014
dc.date.none.fl_str_mv 2014-04-03
2014-04-03T00:00:00Z
2015-02-09T13:06:02Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/2817
url http://hdl.handle.net/10400.18/2817
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Ital J Pediatr. 2014 Apr 3;40:34. doi: 10.1186/1824-7288-40-34. Review
1720-8424
10.1186/1824-7288-40-34
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BioMed Central/ Italian Society of Pediatrics
publisher.none.fl_str_mv BioMed Central/ Italian Society of Pediatrics
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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