Please use this identifier to cite or link to this item:
https://hdl.handle.net/10216/111689
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.creator | Santos, D | - |
dc.creator | Santos, MJ | - |
dc.creator | Alves-Ferreira, M | - |
dc.creator | Coelho, T | - |
dc.creator | Sequeiros, J | - |
dc.creator | Alonso, I | - |
dc.creator | Oliveira, P | - |
dc.creator | Sousa, A | - |
dc.creator | Lemos, C | - |
dc.creator | Grazina, M | - |
dc.date.accessioned | 2018-04-23T11:09:18Z | - |
dc.date.available | 2018-04-23T11:09:18Z | - |
dc.date.issued | 2017 | - |
dc.identifier.issn | 1468-330X | - |
dc.identifier.uri | http://hdl.handle.net/10216/111689 | - |
dc.description.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. | pt_PT |
dc.description.sponsorship | DS 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.language.iso | eng | pt_PT |
dc.publisher | BMJ | pt_PT |
dc.relation.ispartofseries | J Neurol Neurosurg Psychiatry, vol. 89(3), p. 300-304 | pt_PT |
dc.rights | openAccess | pt_PT |
dc.subject | Mitochondrial DNA | pt_PT |
dc.subject | Familial amyloid polyneuropathy | pt_PT |
dc.title | mtDNA copy number associated with age of onset in familial amyloid polyneuropathy | pt_PT |
dc.type | Artigo em Revista Científica Internacional | pt_PT |
dc.contributor.uporto | Instituto de Saúde Pública | pt_PT |
dc.identifier.doi | 10.1136/jnnp-2017-316657 | - |
dc.relation.publisherversion | http://jnnp.bmj.com/content/89/3/300.info | - |
Appears in Collections: | ISPUP - Artigo em Revista Científica Internacional |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
Santos893.pdf | 310.88 kB | Adobe PDF | View/Open |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.