Heat shock protein 70-hom gene polymorphism and protein expression in multiple sclerosis.
Immune-mediated and neurodegenerative mechanisms are involved in multiple sclerosis (MS). Growing evidences highlight the role of HSP70 genes in the susceptibility of some neurological diseases. In this explorative study we analyzed a polymorphism (i.e. HSP70-hom rs2227956) of the gene HSPA1L, which encodes for the protein hsp70-hom. We sequenced the polymorphism by polymerase chain reaction (PCR), in 191 MS patients and 365 healthy controls. The hsp70-hom protein expression was quantified by western blotting. We reported a strong association between rs2227956 polymorphism and MS risk, which is independent from the association with HSP70-2 rs1061581, and a significant link between hsp70-hom protein expression and MS severity.
Inter-Department Multiple Sclerosis Research Centre, National Neurological Institute "C. Mondino", Pavia, Italy.
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Boiocchi
Department of Public Health Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia, Italy.
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Monti
Department of Drug Sciences, Section of Pharmacology, University of Pavia, Pavia, Italy.
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Osera
Inter-Department Multiple Sclerosis Research Centre, National Neurological Institute "C. Mondino", Pavia, Italy.
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Mallucci
Laboratory of Immunogenetics, Department of Biology & Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.
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Pistono
Department of Public Health Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia, Italy.
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Ferraro
Inter-Department Multiple Sclerosis Research Centre, National Neurological Institute "C. Mondino", Pavia, Italy.
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Nosari
Inter-Department Multiple Sclerosis Research Centre, National Neurological Institute "C. Mondino", Pavia, Italy.
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Romani
Laboratory of Immunogenetics, Department of Biology & Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.
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Cuccia
Department of Drug Sciences, Section of Pharmacology, University of Pavia, Pavia, Italy.
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Govoni
Department of Drug Sciences, Section of Pharmacology, University of Pavia, Pavia, Italy.
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Pascale
Department of Public Health Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia, Italy.
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Montomoli
Inter-Department Multiple Sclerosis Research Centre, National Neurological Institute "C. Mondino", Pavia, Italy. Electronic address: roberto.bergamaschi@mondino.it.
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Bergamaschi
D000328:Adult; D004185:Disability Evaluation; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D018840:HSP70 Heat-Shock Proteins / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000187:drug effects / Q000378:metabolism; D016013:Likelihood Functions; D008297:Male; D008609:Mental Status Schedule; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics* / Q000378:metabolism*; D011110:Polymorphism, Genetic / Q000235:genetics*
D018840:HSP70 Heat-Shock Proteins; C525621:HSPA1B protein, human
Heat shock protein; MS; MSSS; Multiple sclerosis; SNP; hsp70-hom; rs2227956