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

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

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

MED - Medical Sciences

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	165-168
Number of pages	4
Journal	Neuroscience Letters
Volume	312
Issue number	3
DOIs	https://doi.org/10.1016/S0304-3940(01)02212-1
Publication status	Published - 2001 Oct 26

Keywords

Amyotrophic lateral sclerosis
Cu/Zn superoxide dismutase
Homozygous mutation

ASJC Scopus subject areas

Neuroscience(all)

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10.1016/S0304-3940(01)02212-1

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Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation. / Kato, Masaaki; Aoki, Masashi; Ohta, Michiya; Nagai, Makiko; Ishizaki, Fumiko; Nakamura, Shigenobu; Itoyama, Yasuto.

In: Neuroscience Letters, Vol. 312, No. 3, 26.10.2001, p. 165-168.

Research output: Contribution to journal › Article › peer-review

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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.",

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note = "Funding Information: This study was supported by Grant-in-Aids for Scientific Research (B: 11470144) and for Encouragement of Young Scientists (11770323) from the Ministry of Education, Science, Sports and Culture of Japan. We are indebted to the family for their cooperation and support. We would like to thank Mr Bell B, for reading the manuscript.",

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AU - Kato, Masaaki

AU - Aoki, Masashi

AU - Ohta, Michiya

AU - Nagai, Makiko

AU - Ishizaki, Fumiko

AU - Nakamura, Shigenobu

AU - Itoyama, Yasuto

N1 - Funding Information: This study was supported by Grant-in-Aids for Scientific Research (B: 11470144) and for Encouragement of Young Scientists (11770323) from the Ministry of Education, Science, Sports and Culture of Japan. We are indebted to the family for their cooperation and support. We would like to thank Mr Bell B, for reading the manuscript.

PY - 2001/10/26

Y1 - 2001/10/26

N2 - 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.

AB - 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.

KW - Amyotrophic lateral sclerosis

KW - Cu/Zn superoxide dismutase

KW - Homozygous mutation

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

Abstract

Keywords

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