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Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

2023-09Journal article Open access
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dc.contributor.authorBaldo, Manuela Schubert
dc.contributor.authorNogueira, Célia
dc.contributor.authorPereira, Cristina
dc.contributor.authorJaneiro, Patrícia
dc.contributor.authorFerreira, Sara
dc.contributor.authorLourenço, Charles M.
dc.contributor.authorBandeira, Anabela
dc.contributor.authorMartins, Esmeralda
dc.contributor.authorMagalhães, Marina
dc.contributor.authorRodrigues, Esmeralda
dc.contributor.authorSantos, Helena
dc.contributor.authorFerreira, Ana Cristina
dc.contributor.authorVilarinho, Laura
dc.date.accessioned2024-07-23T10:06:14Z
dc.date.available2024-07-23T10:06:14Z
dc.date.issued2023-09
dc.description.abstractMitochondrial diseases are the most common inherited inborn error of metabolism resulting in deficient ATP generation, due to failure in homeostasis and proper bioenergetics. The most frequent mitochondrial disease manifestation in children is Leigh syndrome (LS), encompassing clinical, neuroradiological, biochemical, and molecular features. It typically affects infants but occurs anytime in life. Considering recent updates, LS clinical presentation has been stretched, and is now named LS spectrum (LSS), including classical LS and Leigh-like presentations. Apart from clinical diagnosis challenges, the molecular characterization also progressed from Sanger techniques to NGS (next-generation sequencing), encompassing analysis of nuclear (nDNA) and mitochondrial DNA (mtDNA). This upgrade resumed steps and favored diagnosis. Hereby, our paper presents molecular and clinical data on a Portuguese cohort of 40 positive cases of LSS. A total of 28 patients presented mutation in mtDNA and 12 in nDNA, with novel mutations identified in a heterogeneous group of genes. The present results contribute to the better knowledge of the molecular basis of LS and expand the clinical spectrum associated with this syndrome.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBaldo MS, Nogueira C, Pereira C, et al. Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era. Genes (Basel). 2023;14(8):1536. doi:10.3390/genes14081536pt_PT
dc.identifier.doi10.3390/genes14081536pt_PT
dc.identifier.issn2073-4425
dc.identifier.urihttp://hdl.handle.net/10400.16/3015
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relationNORTE-01-0246-FEDER-000014pt_PT
dc.relation.publisherversionhttps://doi.org/10.3390/genes14081536pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectNGSpt_PT
dc.subjectclinical spectrumpt_PT
dc.subjectleigh syndromept_PT
dc.subjectmitochondrial disorderspt_PT
dc.subjectmutational spectrumpt_PT
dc.titleLeigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Erapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/Projetos de Investigação Científica e Desenvolvimento Tecnológico - 2014/PTDC%2FDTP-PIC%2F2220%2F2014/PT
oaire.citation.conferencePlaceSwitzerlandpt_PT
oaire.citation.issue8pt_PT
oaire.citation.startPage1536pt_PT
oaire.citation.titleGenespt_PT
oaire.citation.volume14pt_PT
oaire.fundingStreamProjetos de Investigação Científica e Desenvolvimento Tecnológico - 2014
person.familyNameBandeira
person.familyNameMartins
person.givenNameAnabela Oliveira
person.givenNameEsmeralda
person.identifier.ciencia-id7D12-C53D-288E
person.identifier.ciencia-idBF1C-DAE5-FAEA
person.identifier.orcid0000-0003-1203-8180
person.identifier.orcid0000-0002-9247-9391
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationbe1fe8ab-07c8-4ea5-9f30-8889ef2d43f1
relation.isAuthorOfPublication7f4a528c-bf0f-4895-ac98-4353fe38c68a
relation.isAuthorOfPublication.latestForDiscoverybe1fe8ab-07c8-4ea5-9f30-8889ef2d43f1
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relation.isProjectOfPublication.latestForDiscoverya35138ca-5a6d-4fb3-bbf3-43eeac91ccc3

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