Association between metallothionein genes polymorphisms and sporadic amyotrophic lateral sclerosis in a Japanese population

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive, lethal neurodegenerative disease that selectively affects motor neurons. Reactive oxygen species (ROS) are assumed to be involved in the pathogenesis of ALS. Metallothioneins (MTs) are self‐protective, multifunctional proteins that scavenge ROS. In particular, metallothionein‐III (MT‐III) has a strong scavenging effect on hydroxyl radicals. MTs have been suggested to have important roles in the pathophysiology of ALS. Therefore we investigated single nucleotide polymorphisms (SNPs) of the MT‐III and the metallothionein‐IIA (MT‐IIA) promoter region in 37 Japanese SALS cases and 206 sex‐matched healthy controls using polymerase chain reaction (PCR)‐direct sequencing or PCR‐temporal temperature gradient gel electrophoresis (TTGE). We detected no SNPs of the MT‐III gene in SALS cases and controls, and no detectable association between SALS phenotypes and a SNP of the MT‐IIA promoter region. We conclude that gene polymorphisms of MT‐IIA promoter region and MT‐III gene are not associated with SALS phenotypes in a Japanese population.

• Amyotrophic lateral sclerosis
• metallothionein‐II
• metallothionein‐III
• single nucleotide polymorphism (SNP)