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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