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dc.creatorSantos, D-
dc.creatorSantos, MJ-
dc.creatorAlves-Ferreira, M-
dc.creatorCoelho, T-
dc.creatorSequeiros, J-
dc.creatorAlonso, I-
dc.creatorOliveira, P-
dc.creatorSousa, A-
dc.creatorLemos, C-
dc.creatorGrazina, M-
dc.description.abstractbackground Transthyretin-related familial amyloid polyneuropathy (TTR-Fap Val30Met) shows a wide variation in age-at-onset (aO) between generations and genders, as in portuguese families, where women display a later onset and a larger anticipation (>10 years). Mitochondrial DNa (mtDNa) copy number was assessed to clarify whether it has a modifier effect on aO variability in portuguese patients. Methods The mtDNa copy number of 262 samples (175 Val30Met TTR carriers and 87 controls (proven Val30Val)) was quantified by quantitative real-time pcR. statistical analysis was performed using IBM spss V.23 software. results This study shows that Val30Met TTR carriers have a significantly higher (p<0.001) mean mtDNa copy number than controls. Furthermore, the highest mtDNa copy number mean was observed in early-onset patients (aO <40 years). Importantly, early-onset offspring showed a significant increase (p=0.002) in the mtDNa copy number, when compared with their late aO parents. Conclusions The present findings suggest, for the first time, that mtDNa copy number may be associated with earlier events and may therefore be further explored as a potential biomarker for follow-up of TTR-Fap Val30Met carriers.pt_PT
dc.description.sponsorshipDS and MA-F are recipients of an FCT fellowship (SFRH/BD /91160/2012 and SFRH/BD/101352/2014, respectively). Our funding sources supported the data collection and analysis, but did not play a role in the study design, in interpretation of data, in the writing of the report or in the decision to submit the paper for publication.pt_PT
dc.relation.ispartofseriesJ Neurol Neurosurg Psychiatry, vol. 89(3), p. 300-304pt_PT
dc.subjectMitochondrial DNApt_PT
dc.subjectFamilial amyloid polyneuropathypt_PT
dc.titlemtDNA copy number associated with age of onset in familial amyloid polyneuropathypt_PT
dc.typeArtigo em Revista Científica Internacionalpt_PT
dc.contributor.uportoInstituto de Saúde Públicapt_PT
Appears in Collections:ISPUP - Artigo em Revista Científica Internacional

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