Please use this identifier to cite or link to this item:
Title: Genetic basis of Alzheimer's dementia: role of mtDNA mutations
Authors: Grazina, M. 
Pratas, J. 
Silva, F. 
Oliveira, S. 
Santana, I. 
Oliveira, C. 
Issue Date: 2006
Citation: Genes, Brain & Behavior. 5:s2 (2006) 92-107
Abstract: Alzheimer's disease (AD) is the most common neurodegenerative disorder associated to dementia in late adulthood. Amyloid precursor protein, presenilin 1 and presenilin 2 genes have been identified as causative genes for familial AD, whereas apolipoprotein E 6034 allele has been associated to the risk for late onset AD. However, mutations on these genes do not explain the majority of cases. Mitochondrial respiratory chain (MRC) impairment has been detected in brain, muscle, fibroblasts and platelets of Alzheimer's patients, indicating a possible involvement of mitochondrial DNA (mtDNA) in the aetiology of the disease. Several reports have identified mtDNA mutations in Alzheimer's patients, suggesting the existence of related causal factors probably of mtDNA origin, thus pointing to the involvement of mtDNA in the risk contributing to dementia, but there is no consensual opinion in finding the cause for impairment. However, mtDNA mutations might modify age of onset, contributing to the neurodegenerative process, probably due to an impairment of MRC and/or translation mechanisms.
DOI: 10.1111/j.1601-183X.2006.00225.x
Rights: openAccess
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais

Files in This Item:
File Description SizeFormat
obra.pdf173.07 kBAdobe PDFView/Open
Show full item record


checked on Nov 7, 2019

Page view(s) 50

checked on Jan 30, 2020

Download(s) 50

checked on Jan 30, 2020

Google ScholarTM




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