Please use this identifier to cite or link to this item:
Author(s): Santos, D
Santos, MJ
Alves-Ferreira, M
Coelho, T
Sequeiros, J
Alonso, I
Oliveira, P
Sousa, A
Lemos, C
Grazina, M
Title: mtDNA copy number associated with age of onset in familial amyloid polyneuropathy
Publisher: BMJ
Issue Date: 2017
Abstract: background 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.
Subject: Mitochondrial DNA
Familial amyloid polyneuropathy
Series: J Neurol Neurosurg Psychiatry, vol. 89(3), p. 300-304
Document Type: Artigo em Revista Científica Internacional
Rights: openAccess
Appears in Collections:ISPUP - Artigo em Revista Científica Internacional

Files in This Item:
File Description SizeFormat 
Santos893.pdf310.88 kBAdobe PDFThumbnail

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.