Molecular basis of Leigh syndrome: a current look

Detalhes bibliográficos
Autor(a) principal: Schubert Baldo, Manuela
Data de Publicação: 2020
Outros Autores: Vilarinho, Laura
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/7656
Resumo: Correction to: Molecular basis of Leigh syndrome: a current look. Schubert Baldo M, Vilarinho L. Orphanet J Rare Dis. 2020 Mar 25;15(1):77. doi: 10.1186/s13023-020-1351-7.
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spelling Molecular basis of Leigh syndrome: a current lookHigh-Throughput Nucleotide SequencingHumansLeigh DiseaseMagnetic Resonance ImagingMitochondrial ProteinsModels, BiologicalMutationLeigh SyndromeLeigh-like Syndrome;MILSNARPOXPHOSReviewDoenças GenéticasCorrection to: Molecular basis of Leigh syndrome: a current look. Schubert Baldo M, Vilarinho L. Orphanet J Rare Dis. 2020 Mar 25;15(1):77. doi: 10.1186/s13023-020-1351-7.Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in mitochondrial energy production that usually starts in early childhood. The first description given by Leigh pointed out neurological symptoms in children under 2 years and premature death. Following cases brought some hypothesis to explain the cause due to similarity to other neurological diseases and led to further investigation for metabolic diseases. Biochemical evaluation and specific metabolic profile suggested impairment in energy production (OXPHOS) in mitochondria. As direct approach to involved tissues is not always possible or safe, molecular analysis is a great cost-effective option and, besides biochemical results, is required to confirm the underlying cause of this syndrome face to clinical suspicion. The Next Generation Sequencing (NGS) advance represented a breakthrough in molecular biology allowing simultaneous gene analysis giving short-time results and increasing the variants underlying this syndrome, counting over 75 monogenic causes related so far. NGS provided confirmation of emerging cases and brought up diagnosis in atypical presentations as late-onset cases, which turned Leigh into a heterogeneous syndrome with variable outcomes. This review highlights clinical presentation in both classic and atypical phenotypes, the investigation pathway throughout confirmation emphasizing the underlying genetic heterogeneity and increasing number of genes assigned to this syndrome as well as available treatment.BMC/ OrphanetRepositório Científico do Instituto Nacional de SaúdeSchubert Baldo, ManuelaVilarinho, Laura2021-04-07T15:56:21Z2020-01-292020-01-29T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfapplication/pdfhttp://hdl.handle.net/10400.18/7656engOrphanet J Rare Dis. 2020 Jan 29;15(1):31. doi: 10.1186/s13023-020-1297-9.1750-117210.1186/s13023-020-1297-9info: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:RCAAP2023-07-20T15:42:08Zoai:repositorio.insa.pt:10400.18/7656Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:42:18.006848Repositório 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 Molecular basis of Leigh syndrome: a current look
title Molecular basis of Leigh syndrome: a current look
spellingShingle Molecular basis of Leigh syndrome: a current look
Schubert Baldo, Manuela
High-Throughput Nucleotide Sequencing
Humans
Leigh Disease
Magnetic Resonance Imaging
Mitochondrial Proteins
Models, Biological
Mutation
Leigh Syndrome
Leigh-like Syndrome;
MILS
NARP
OXPHOS
Review
Doenças Genéticas
title_short Molecular basis of Leigh syndrome: a current look
title_full Molecular basis of Leigh syndrome: a current look
title_fullStr Molecular basis of Leigh syndrome: a current look
title_full_unstemmed Molecular basis of Leigh syndrome: a current look
title_sort Molecular basis of Leigh syndrome: a current look
author Schubert Baldo, Manuela
author_facet Schubert Baldo, Manuela
Vilarinho, Laura
author_role author
author2 Vilarinho, Laura
author2_role author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Schubert Baldo, Manuela
Vilarinho, Laura
dc.subject.por.fl_str_mv High-Throughput Nucleotide Sequencing
Humans
Leigh Disease
Magnetic Resonance Imaging
Mitochondrial Proteins
Models, Biological
Mutation
Leigh Syndrome
Leigh-like Syndrome;
MILS
NARP
OXPHOS
Review
Doenças Genéticas
topic High-Throughput Nucleotide Sequencing
Humans
Leigh Disease
Magnetic Resonance Imaging
Mitochondrial Proteins
Models, Biological
Mutation
Leigh Syndrome
Leigh-like Syndrome;
MILS
NARP
OXPHOS
Review
Doenças Genéticas
description Correction to: Molecular basis of Leigh syndrome: a current look. Schubert Baldo M, Vilarinho L. Orphanet J Rare Dis. 2020 Mar 25;15(1):77. doi: 10.1186/s13023-020-1351-7.
publishDate 2020
dc.date.none.fl_str_mv 2020-01-29
2020-01-29T00:00:00Z
2021-04-07T15:56:21Z
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/10400.18/7656
url http://hdl.handle.net/10400.18/7656
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Orphanet J Rare Dis. 2020 Jan 29;15(1):31. doi: 10.1186/s13023-020-1297-9.
1750-1172
10.1186/s13023-020-1297-9
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv BMC/ Orphanet
publisher.none.fl_str_mv BMC/ Orphanet
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
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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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