Contribution of non-reference alleles in mtDNA of Alzheimer's disease patients

Many observations suggest that mutations of mitochondrial DNA (mtDNA) could be responsible for the neurodegenerative changes of Alzheimer's disease (AD). Here we examined the signal intensity of the four alleles of each mtDNA nucleotide position (np) in whole blood of AD patients and age-matche...

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Autores principales: Casoli, Tiziana, Di Stefano, Giuseppina, Spazzafumo, Liana, Balietti, Marta, Giorgetti, Belinda, Giuli, Cinzia, Postacchini, Demetrio, Fattoretti, Patrizia, Conti, Fiorenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4292745/
https://www.ncbi.nlm.nih.gov/pubmed/25590040
http://dx.doi.org/10.1002/acn3.42
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author Casoli, Tiziana
Di Stefano, Giuseppina
Spazzafumo, Liana
Balietti, Marta
Giorgetti, Belinda
Giuli, Cinzia
Postacchini, Demetrio
Fattoretti, Patrizia
Conti, Fiorenzo
author_facet Casoli, Tiziana
Di Stefano, Giuseppina
Spazzafumo, Liana
Balietti, Marta
Giorgetti, Belinda
Giuli, Cinzia
Postacchini, Demetrio
Fattoretti, Patrizia
Conti, Fiorenzo
author_sort Casoli, Tiziana
collection PubMed
description Many observations suggest that mutations of mitochondrial DNA (mtDNA) could be responsible for the neurodegenerative changes of Alzheimer's disease (AD). Here we examined the signal intensity of the four alleles of each mtDNA nucleotide position (np) in whole blood of AD patients and age-matched controls using MitoChip v2.0 array. Our analysis identified 270 significantly different nps which, with one exception, showed an increased contribution of non-reference alleles in AD patients. Principal component analysis (PCA) and cluster analysis showed that five of these nps could discriminate AD from control subjects with 80% of cases correctly classified. Our data support the hypothesis of mtDNA alterations as an important factor in the etiology of AD.
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spelling pubmed-42927452015-01-14 Contribution of non-reference alleles in mtDNA of Alzheimer's disease patients Casoli, Tiziana Di Stefano, Giuseppina Spazzafumo, Liana Balietti, Marta Giorgetti, Belinda Giuli, Cinzia Postacchini, Demetrio Fattoretti, Patrizia Conti, Fiorenzo Ann Clin Transl Neurol Brief Communications Many observations suggest that mutations of mitochondrial DNA (mtDNA) could be responsible for the neurodegenerative changes of Alzheimer's disease (AD). Here we examined the signal intensity of the four alleles of each mtDNA nucleotide position (np) in whole blood of AD patients and age-matched controls using MitoChip v2.0 array. Our analysis identified 270 significantly different nps which, with one exception, showed an increased contribution of non-reference alleles in AD patients. Principal component analysis (PCA) and cluster analysis showed that five of these nps could discriminate AD from control subjects with 80% of cases correctly classified. Our data support the hypothesis of mtDNA alterations as an important factor in the etiology of AD. Blackwell Publishing Ltd 2014-04 2014-03-11 /pmc/articles/PMC4292745/ /pubmed/25590040 http://dx.doi.org/10.1002/acn3.42 Text en © 2014 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Brief Communications
Casoli, Tiziana
Di Stefano, Giuseppina
Spazzafumo, Liana
Balietti, Marta
Giorgetti, Belinda
Giuli, Cinzia
Postacchini, Demetrio
Fattoretti, Patrizia
Conti, Fiorenzo
Contribution of non-reference alleles in mtDNA of Alzheimer's disease patients
title Contribution of non-reference alleles in mtDNA of Alzheimer's disease patients
title_full Contribution of non-reference alleles in mtDNA of Alzheimer's disease patients
title_fullStr Contribution of non-reference alleles in mtDNA of Alzheimer's disease patients
title_full_unstemmed Contribution of non-reference alleles in mtDNA of Alzheimer's disease patients
title_short Contribution of non-reference alleles in mtDNA of Alzheimer's disease patients
title_sort contribution of non-reference alleles in mtdna of alzheimer's disease patients
topic Brief Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4292745/
https://www.ncbi.nlm.nih.gov/pubmed/25590040
http://dx.doi.org/10.1002/acn3.42
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