Association between metallothionein genes polymorphisms and sporadic amyotrophic lateral sclerosis in a Japanese population.
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.
Department of Neurology and Geriatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
Yuichi
Y
Hayashi
Tatsuma
T
Hashizume
Kenji
K
Wakida
Masahiko
M
Satoh
Yoko
Y
Uchida
Kazuhiko
K
Watabe
Zenjiro
Z
Matsuyama
Akio
A
Kimura
Takashi
T
Inuzuka
Isao
I
Hozumi
D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D015994:Incidence; D007564:Japan / Q000453:epidemiology; D008297:Male; D008668:Metallothionein / Q000235:genetics*; D000090023:Metallothionein 3; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D013223:Statistics as Topic
C491053:MT2A protein, human; D000090023:Metallothionein 3; D009419:Nerve Tissue Proteins; D008668:Metallothionein