Heat shock protein 70-hom gene polymorphism and protein expression in multiple sclerosis

• We focused our attention on the molecular chaperon Hsp70-Hom
• We demonstrates that + 2437 HSP70-hom (rs2227956) polymorphism is significantly associated with Multiple Sclerosis (MS) severity.
• However, hsp70-hom protein expression was significantly linked to MS severity
• The haplotype analysis shows that the combination of the two risk alleles increases MS risk.
• Our findings suggest that the modulation of Hsp70 in the complex scenario of MS is of pivotal importance and it may influence MS development.

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.

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