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

Masaaki Kato, Masashi Aoki, Michiya Ohta, Makiko Nagai, Fumiko Ishizaki, Shigenobu Nakamura, Yasuto Itoyama

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)165-168
Number of pages4
JournalNeuroscience Letters
Volume312
Issue number3
DOIs
Publication statusPublished - 2001 Oct 26

Keywords

  • Amyotrophic lateral sclerosis
  • Cu/Zn superoxide dismutase
  • Homozygous mutation

ASJC Scopus subject areas

  • Neuroscience(all)

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