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• W2079884614 abstract "c Indian Academy of Sciences RESEARCH NOTE A microdeletion in Alzheimer’s disease disrupts NAMPT gene DARINE VILLELA 1 , DAVID SCHLESINGER 2 , CLAUDIA K. SUEMOTO 3 , LEA T. GRINBERG 3,4 and CARLA ROSENBERG 1 ∗ Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Rua do Matao 277, 05508-090, Sao Paulo, Brazil Israel Institute for Teaching and Research Albert Einstein, Avenida Albert Einstein 627, 05652-900, Sao Paulo, Brazil Brazilian Aging Brain Study Group - LIM22, Department of Pathology, University of Sao Paulo Medical School, Avenida Doutor Arnaldo 455, 01246-000, Sao Paulo, Brazil Memory and Aging Center, Department of Neurology, University of California, San Francisco, 675 Nelson Rising Lane, P.O. Box 1207, San Francisco, CA 94143, USA [Villela D., Schlesinger D., Suemoto C. K., Grinberg L. T. and Rosenberg C. 2014 A microdeletion in Alzheimer’s disease disrupts NAMPT gene. J. Genet. 93, 535–537] DNA copy number variations (CNVs) are recognized to be a prevalent form of common genetic variation in the human genome and their role in normal development and disease has been demonstrated through their impact on gene expression and protein structure (Stankiewicz and Lupski 2010). Here we report on a subject with late-onset Alzheimer’s disease (AD) a rare CNV that disrupts the nicotinamide phosphori- bosyltransferase (NAMPT) gene, which encodes an impor- tant enzyme that mediates nicotinamide adenine dinucleotide (NAD) biosynthesis. Recently an interesting study showed that overexpression of the gene for NAD-dependent deacety- lase sirtuin-1 (SIRT1) reduces production of amyloid beta (Aβ) and plaques in the brain of AD mice (Donmez et al. 2010); disruption of NAMPT, therefore, is a likely mecha- nism of increased production of Aβ and plaques. The subject was an 83-year-old woman, Caucasian, one year of schooling, investigated by the Brain Bank of the Brazilian Aging Brain Study Group (BBBABSG) (Grinberg et al. 2007) with a neuropathological diagnosis of AD (Braak stage 3; CERAD (Consortium to Establish a Registry in AD) moderate; and moderate likelihood that the dementia was caused by AD according to the National Institute on Aging (NIA)–Reagan criteria). After a day of hospitaliza- tion due to chest pain and dyspnea, she died because of an acute myocardial infarction. After death, the brain was exam- ined macroscopically, and 15 neurodegenerative-disease- related structures were sampled for microscopic examination ∗ For correspondence. E-mail: carlarosenberg@uol.com.br. according to standard protocol. Neuropathological exami- nations were carried out using immunohistochemistry fol- lowing internationally accepted guidelines. CERAD crite- ria were used to classify the β-amyloid neuritic plaque bur- den and the distribution of neurofibrillary tangles was clas- sified according to the Braak and Braak staging system (Braak and Braak 1991). Neuropathological diagnosis of AD is made where cases show at least Braak stage III and are CERAD moderate. The usual neuropathological guide- lines were used for other dementias and for Parkinson’s dis- ease (Grinberg et al. 2007). The subject’s clinical and func- tional statuses were assessed through a knowledgeable infor- mant based on a validated clinical protocol. The protocol included a series of semi-structured scales and question- naires that cover major functional abilities and were vali- dated for assessment with an informant. BBBABSG’s pro- cedures were approved by the local ethics committee and an informed written consent was obtained from the next of kin (Grinberg et al. 2007). To identify new candidate genes, we investigated con- stitutive CNVs by oligonucleotide comparative genomic hybridization based on microarray (array-CGH) using a 180K whole-genome platform (Oxford Gene Technologies, Kidlington, UK), as previously described (Krepischi et al. 2012). Briefly, samples were labelled with Cy3- deoxycytidine and Cy5-deoxycytidine triphosphates by ran- dom priming. Purification, hybridization and washing were carried out as recommended by the manufacturer. Scanned images of the arrays were processed using Feature Extraction software and data were analysed using Genomic Workbench software, both from Agilent Technologies (Santa Clara, Keywords. Alzheimer’s disease; copy number variations; array-CGH; NAMPT gene. Journal of Genetics, Vol. 93, No. 2, August 2014" @default.
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• W2079884614 date "2014-08-01" @default.
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• W2079884614 title "A microdeletion in Alzheimer’s disease disrupts NAMPT gene" @default.
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