Document Detail

Role of hnRNP-A1 and miR-590-3p in neuronal death: genetics and expression analysis in patients with Alzheimer disease and frontotemporal lobar degeneration.
MedLine Citation:
PMID:  21548758     Owner:  NLM     Status:  MEDLINE    
An association study of heterogeneous nuclear ribonucleoprotein (hnRNP)-A1 was carried out in a population of 274 patients with frontotemporal lobar degeneration (FTLD) and 287 with Alzheimer disease (AD) as compared with 344 age- and gender-matched controls. In addition, we evaluated expression levels of hnRNP-A1 and its regulatory microRNA (miR)-590-3p in blood cells from patients and controls. A statistically significant increased frequency of the hnRNP-A1 rs7967622 C/C genotype was observed in FTLD, but not in AD, in patients as compared to controls (23.0 versus 15.4%; p = 0.022, odds ratio [OR] 1.64, confidence interval [CI] 1.09-2.46). Stratifying according to gender, a statistically significant increased frequency of the hnRNP-A1 rs7967622 C/C genotype was observed in male patients as compared to male controls (23.1 versus 11.3%; p = 0.015, OR 2.36, CI 1.22-4.58 but not in females. Considering the rs4016671 single-nucleotide polymorphism (SNP), all patients and controls were wild type. Significantly increased hnRNP-A1 relative expression levels in peripheral blood mononuclear cells (PBMCs) was observed in patients with AD, but not with FTLD, as compared to controls (2.724 ± 0.570 versus 1.076 ± 0.187, p = 0.021). Decreased relative expression levels of hsa-miR-590-3p was observed in patients with AD versus controls (0.685 ± 0.080 versus 0.931 ± 0.111, p = 0.079), and correlated negatively with hnRNP-A1 mRNA levels (r = -0.615, p = 0.0237). According to these findings, hnRNP-A1 and its transcription regulatory factor miR-590-3p are disregulated in patients with AD, and the hnRNP-A1 rs7967622 C/C genotype is likely a risk factor for FTLD in male populations.
Chiara Villa; Chiara Fenoglio; Milena De Riz; Francesca Clerici; Alessandra Marcone; Luisa Benussi; Roberta Ghidoni; Salvatore Gallone; Francesca Cortini; Maria Serpente; Claudia Cantoni; Giorgio Fumagalli; Filippo Martinelli Boneschi; Stefano Cappa; Giuliano Binetti; Massimo Franceschi; Innocenzo Rainero; Maria Teresa Giordana; Claudio Mariani; Nereo Bresolin; Elio Scarpini; Daniela Galimberti
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-05-06
Journal Detail:
Title:  Rejuvenation research     Volume:  14     ISSN:  1557-8577     ISO Abbreviation:  Rejuvenation Res     Publication Date:  2011 Jun 
Date Detail:
Created Date:  2011-07-14     Completed Date:  2011-12-07     Revised Date:  2012-02-16    
Medline Journal Info:
Nlm Unique ID:  101213381     Medline TA:  Rejuvenation Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  275-81     Citation Subset:  IM    
Department of Neurological Sciences, Dino Ferrari Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
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MeSH Terms
Alzheimer Disease / genetics*,  pathology
Base Sequence
Case-Control Studies
Cell Death
Frontotemporal Lobar Degeneration / genetics*,  pathology
Gene Expression Regulation*
Gene Frequency / genetics
Heterogeneous-Nuclear Ribonucleoprotein Group A-B / blood,  genetics*
MicroRNAs / blood,  genetics*
Molecular Sequence Data
Neurons / metabolism*,  pathology*
Polymorphism, Single Nucleotide / genetics
Sequence Alignment
Reg. No./Substance:
0/Heterogeneous-Nuclear Ribonucleoprotein Group A-B; 0/MIRN590 microRNA, human; 0/MicroRNAs; 0/hnRNP A1

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