@prefix pubblicazioni: . @prefix unitaDiPersonaleEsterno: . @prefix prodotto: . unitaDiPersonaleEsterno:ID1382 pubblicazioni:autoreCNRDi prodotto:ID38858 . @prefix unitaDiPersonaleInterno: . unitaDiPersonaleInterno:MATRICOLA10160 pubblicazioni:autoreCNRDi prodotto:ID38858 . unitaDiPersonaleInterno:MATRICOLA8402 pubblicazioni:autoreCNRDi prodotto:ID38858 . @prefix prodottidellaricerca: . @prefix istituto: . istituto:CDS061 prodottidellaricerca:prodotto prodotto:ID38858 . @prefix modulo: . modulo:ID2649 prodottidellaricerca:prodotto prodotto:ID38858 . @prefix rdf: . @prefix retescientifica: . prodotto:ID38858 rdf:type retescientifica:ProdottoDellaRicerca , prodotto:TIPO1101 . @prefix rdfs: . prodotto:ID38858 rdfs:label "Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease. (Articolo in rivista)"@en . @prefix xsd: . prodotto:ID38858 pubblicazioni:anno "2010-01-01T00:00:00+01:00"^^xsd:gYear . @prefix skos: . prodotto:ID38858 skos:altLabel "
Santoro A; Balbi V; Balducci E; Pirazzini C; Rosini F; Tavano F; Achilli A; Siviero P; Minicuci N; Bellavista E; Mishto M; Salvioli S; Marchegiani F; Cardelli M; Olivieri F; Nacmias B; Chiamenti AM; Benussi L; Ghidoni R; Rose G; Gabelli C; Binetti G; et al. (2010)
Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease.
in PloS one
"^^rdf:HTML ; pubblicazioni:autori "Santoro A; Balbi V; Balducci E; Pirazzini C; Rosini F; Tavano F; Achilli A; Siviero P; Minicuci N; Bellavista E; Mishto M; Salvioli S; Marchegiani F; Cardelli M; Olivieri F; Nacmias B; Chiamenti AM; Benussi L; Ghidoni R; Rose G; Gabelli C; Binetti G; et al."^^xsd:string ; pubblicazioni:paginaInizio "12037"^^xsd:string ; pubblicazioni:numeroVolume "5"^^xsd:string . @prefix ns12: . prodotto:ID38858 pubblicazioni:rivista ns12:ID114232 ; skos:note "ISI Web of Science (WOS)"^^xsd:string ; pubblicazioni:affiliazioni "Department of Experimental Pathology, University of Bologna, Bologna, Italy, \nCIG-Interdepartmental Center for Biophysics and Biocomplexity Studies, University of Bologna, Bologna, Italy, \nDepartment of Genetics and Microbiology, University of Pavia, Pavia, Italy, \nDepartment of Cell and Environmental Biology, University of Perugia, Perugia, Italy, \nNational Council Research, Institute of Neuroscience, Padova, Italy, \nInstitute of Biochemistry, Medical Faculty Charite\u00B4 , Berlin, Germany, \nItalian National Research Center for Aging (I.N.R.C.A.), Ancona, Italy, \nDepartment of Molecular Pathology and Innovative Therapies, Polytechnic University of Marche, Ancona, Italy, \nDepartment of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy, \nRegional Center for Cerebral Aging, Valdagno, Vicenza, Italy,\nNeuroBioGen Lab-Memory Clinic, ''Centro S.Giovanni di Dio-Fatebenefratelli'', Brescia, Italy, 12 Proteomics Unit, ''Centro S.Giovanni di Dio-Fatebenefratelli'', Brescia, Italy, \nDepartment of Cell Biology, University of Calabria, Rende, Cosenza, Italy"^^xsd:string ; pubblicazioni:titolo "Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease."^^xsd:string ; prodottidellaricerca:abstract "Background: Alzheimer's Disease (AD) is the most common neurodegenerative disease and the leading cause of dementia\namong senile subjects. It has been proposed that AD can be caused by defects in mitochondrial oxidative phosphorylation.\nGiven the fundamental contribution of the mitochondrial genome (mtDNA) for the respiratory chain, there have been a\nnumber of studies investigating the association between mtDNA inherited variants and multifactorial diseases, however no\ngeneral consensus has been reached yet on the correlation between mtDNA haplogroups and AD.\nMethodology/Principal Findings: We applied for the first time a high resolution analysis (sequencing of displacement loop\nand restriction analysis of specific markers in the coding region of mtDNA) to investigate the possible association between\nmtDNA-inherited sequence variation and AD in 936 AD patients and 776 cognitively assessed normal controls from central\nand northern Italy. Among over 40 mtDNA sub-haplogroups analysed, we found that sub-haplogroup H5 is a risk factor for\nAD (OR = 1.85, 95% CI:1.04-3.23) in particular for females (OR = 2.19, 95% CI:1.06-4.51) and independently from the APOE\ngenotype. Multivariate logistic regression revealed an interaction between H5 and age. When the whole sample is\nconsidered, the H5a subgroup of molecules, harboring the 4336 transition in the tRNAGln gene, already associated to AD in\nearly studies, was about threefold more represented in AD patients than in controls (2.0% vs 0.8%; p = 0.031), and it might\naccount for the increased frequency of H5 in AD patients (4.2% vs 2.3%). The complete re-sequencing of the 56 mtDNAs\nbelonging to H5 revealed that AD patients showed a trend towards a higher number (p = 0.052) of sporadic mutations in\ntRNA and rRNA genes when compared with controls.\nConclusions: Our results indicate that high resolution analysis of inherited mtDNA sequence variation can help in\nidentifying both ancient polymorphisms defining sub-haplogroups and the accumulation of sporadic mutations associated\nwith complex traits such as AD."@en ; prodottidellaricerca:prodottoDi istituto:CDS061 , modulo:ID2649 ; pubblicazioni:autoreCNR unitaDiPersonaleInterno:MATRICOLA10160 , unitaDiPersonaleEsterno:ID1382 , unitaDiPersonaleInterno:MATRICOLA8402 . ns12:ID114232 pubblicazioni:rivistaDi prodotto:ID38858 .