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

J Neuroimmunol. 2016 Sep 15:298:189-93. doi: 10.1016/j.jneuroim.2016.07.011. Epub 2016 Jul 15.

Abstract

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.

Keywords: Heat shock protein; MS; MSSS; Multiple sclerosis; SNP; hsp70-hom; rs2227956.

MeSH terms

  • Adult
  • Disability Evaluation
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • HSP70 Heat-Shock Proteins / genetics*
  • HSP70 Heat-Shock Proteins / metabolism*
  • Humans
  • Leukocytes, Mononuclear / drug effects
  • Leukocytes, Mononuclear / metabolism
  • Likelihood Functions
  • Male
  • Mental Status Schedule
  • Middle Aged
  • Multiple Sclerosis / genetics*
  • Multiple Sclerosis / metabolism*
  • Polymorphism, Genetic / genetics*

Substances

  • HSP70 Heat-Shock Proteins
  • HSPA1B protein, human