title: Transcriptional and epigenetic phenomena in peripheral blood cells of monozygotic twins discordant for alzheimer's disease, a case report.
abstract: Target genes in Alzheimer's disease (AD) have been identified. In monozygotic twins discordant for AD we analysed the expression of selected genes, and their possible regulation by epigenetic mechanisms in peripheral blood mononuclear cells, possibly useful to discover biomarkers. Amyloid precursor protein, sirtuin 1 and peptidyl prolyl isomerase 1 gene expressions were highly up-regulated in the AD twin versus the healthy one. Consistently with sirtuin 1 role in controlling acetylation status, we observed a substantial reduction of the acetylation on histone 3 lysine 9, associated with gene transcription in the AD twin. Noteworthy in the AD twin we also observed an increased gene expression in two histone deacetylases (HDACs) isoforms: HDAC2 and HDAC9. A general DNA hypomethylation of all gene promoters studied was also observed in both twins. Our results unravel transcriptional and epigenetic differences potentially helpful to better understand environmental factors and phenotypic differences in monozygotic twins.
authors.affiliation: Faculty of Bioscience and Technology for Food, Agriculture and Environment, University of Teramo, Teramo, Italy; European Center for Brain Research (CERC)/Santa Lucia Foundation, Rome, Italy. Electronic address: cdaddario@unite.it.
authors.forename: Claudio
authors.initials: C
authors.lastname: D'Addario
authors.affiliation: Departamento de Biología, Facultad de Ciencias, Universidad de Tarapacá, Arica, Chile.
authors.forename: Sussy Bastias
authors.initials: SB
authors.lastname: Candia
authors.affiliation: Geriatric Unit, Department of Medical Sciences and Community Health, University of Milan, Italy; Fondazione Ca'Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Beatrice
authors.initials: B
authors.lastname: Arosio
authors.affiliation: Faculty of Bioscience and Technology for Food, Agriculture and Environment, University of Teramo, Teramo, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Di Bartolomeo
authors.affiliation: Fondazione Ca'Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Abbate
authors.affiliation: Geriatric Unit, Department of Medical Sciences and Community Health, University of Milan, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Casè
authors.affiliation: Department of Pharmacy and Biotechnology, University of Bologna, Italy.
authors.forename: Sanzio
authors.initials: S
authors.lastname: Candeletti
authors.affiliation: Department of Pharmacy and Biotechnology, University of Bologna, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Romualdi
authors.affiliation: Fondazione Ca'Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy; Nutritional Sciences, University of Milan, Milan, Italy.
authors.forename: Sarah
authors.initials: S
authors.lastname: Damanti
authors.affiliation: European Center for Brain Research (CERC)/Santa Lucia Foundation, Rome, Italy; Department of Medicine, Campus Bio-Medico University of Rome, Rome, Italy.
authors.forename: Mauro
authors.initials: M
authors.lastname: Maccarrone
authors.affiliation: Geriatric Unit, Department of Medical Sciences and Community Health, University of Milan, Italy; A.S.P Pio Albergo Trivulzio, Milan, Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: Bergamaschini
authors.affiliation: Geriatric Unit, Department of Medical Sciences and Community Health, University of Milan, Italy; Fondazione Ca'Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Mari
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics*; D015415:Biomarkers / Q000097:blood; D019175:DNA Methylation; D004200:Diseases in Twins / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics*; D044127:Epigenesis, Genetic; D005260:Female; D006801:Humans; D007963:Leukocytes, Mononuclear; D014158:Transcription, Genetic; D014430:Twins, Monozygotic / Q000235:genetics*
chemical_list: D015415:Biomarkers
keywords: Alzheimer’s disease; Epigenetic mechanisms; Gene expression; Monozygotic twins; Peripheral blood mononuclear cells