title: Contribution of non-reference alleles in mtDNA of Alzheimer's disease patients.
abstract: 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.
authors.affiliation: Center for Neurobiology of Aging, INRCA IRCCS Ancona, 60121, Italy.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Casoli
authors.affiliation: Center for Neurobiology of Aging, INRCA IRCCS Ancona, 60121, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Di Stefano
authors.affiliation: Center of Biostatistics, INRCA IRCCS Ancona, 60124, Italy.
authors.forename: Liana
authors.initials: L
authors.lastname: Spazzafumo
authors.affiliation: Cellular Bioenergetics Laboratory, Center for Neurobiology of Aging, INRCA IRCCS Ancona, 60121, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Balietti
authors.affiliation: Center for Neurobiology of Aging, INRCA IRCCS Ancona, 60121, Italy.
authors.forename: Belinda
authors.initials: B
authors.lastname: Giorgetti
authors.affiliation: Unit of Geriatrics, INRCA IRCCS Hospital Fermo, 63023, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Giuli
authors.affiliation: Unit of Geriatrics, INRCA IRCCS Hospital Fermo, 63023, Italy.
authors.forename: Demetrio
authors.initials: D
authors.lastname: Postacchini
authors.affiliation: Cellular Bioenergetics Laboratory, Center for Neurobiology of Aging, INRCA IRCCS Ancona, 60121, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Fattoretti
authors.affiliation: Center for Neurobiology of Aging, INRCA IRCCS Ancona, 60121, Italy ; Section of Neuroscience and Cell Biology, Department of Experimental and Clinical Medicine, Università Politecnica delle Marche Ancona, 60126, Italy.
authors.forename: Fiorenzo
authors.initials: F
authors.lastname: Conti