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

被引：23

作者：

Kato, M

Aoki, M

Ohta, M

Nagai, M

Ishizaki, F

Nakamura, S

Itoyama, Y

机构：

[1] Tohoku Univ, Sch Med, Dept Neurol, Aoba Ku, Sendai, Miyagi 9808574, Japan

[2] Hiroshima Red Cross Hosp, Dept Neurol, Hiroshima, Japan

[3] Hiroshima Univ, Sch Med, Dept Internal Med 3, Hiroshima, Japan

来源：

NEUROSCIENCE LETTERS | 2001年 / 312卷 / 03期

关键词：

amyotrophic lateral sclerosis; Cu/Zn superoxide dismutase; homozygous mutation;

D O I：

10.1016/S0304-3940(01)02212-1

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.

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页码：165 / 168

页数：4

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