Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation

M Kato; M Aoki; M Ohta; M Nagai; F Ishizaki; S Nakamura; Y Itoyama

doi:10.1016/s0304-3940(01)02212-1

Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation

Neurosci Lett. 2001 Oct 26;312(3):165-8. doi: 10.1016/s0304-3940(01)02212-1.

Authors

M Kato¹, M Aoki, M Ohta, M Nagai, F Ishizaki, S Nakamura, Y Itoyama

Affiliation

¹ Department of Neurology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.

PMID: 11602336
DOI: 10.1016/s0304-3940(01)02212-1

Abstract

We identified a missense mutation of the Cu/Zn superoxide dismutase (SOD) gene (Leu126Ser) in a Japanese family with ALS that included a patient with the homozygous mutation. The content of the Cu/Zn SOD polypeptide in erythrocytes was markedly reduced in the case with the homozygous mutation compared to those with the heterozygous mutation. We speculated that this reduction of the mutant Cu/Zn SOD molecule might be related to the severe clinical phenotype of the case.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Amyotrophic Lateral Sclerosis / blood
Amyotrophic Lateral Sclerosis / enzymology*
Amyotrophic Lateral Sclerosis / genetics*
DNA Mutational Analysis
Down-Regulation / genetics*
Erythrocytes / metabolism
Exons / genetics
Female
Genetic Testing
Homozygote
Humans
Japan
Male
Middle Aged
Mutation, Missense / genetics*
Pedigree
Phenotype
Superoxide Dismutase / blood
Superoxide Dismutase / deficiency*
Superoxide Dismutase / genetics*

Substances

Superoxide Dismutase