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

23 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)

Access to Document

10.1016/S0304-3940(01)02212-1

Cite this

@article{d31d43f6eeee418d98fff190cfaf8266,

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

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.",

keywords = "Amyotrophic lateral sclerosis, Cu/Zn superoxide dismutase, Homozygous mutation",

author = "Masaaki Kato and Masashi Aoki and Michiya Ohta and Makiko Nagai and Fumiko Ishizaki and Shigenobu Nakamura and Yasuto Itoyama",

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.",

year = "2001",

month = oct,

day = "26",

doi = "10.1016/S0304-3940(01)02212-1",

language = "English",

volume = "312",

pages = "165--168",

journal = "Neuroscience Letters",

issn = "0304-3940",

publisher = "Elsevier Ireland Ltd",

number = "3",

}

TY - JOUR

T1 - Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation

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

UR - http://www.scopus.com/inward/record.url?scp=0035955486&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035955486&partnerID=8YFLogxK

U2 - 10.1016/S0304-3940(01)02212-1

DO - 10.1016/S0304-3940(01)02212-1

M3 - Article

C2 - 11602336

AN - SCOPUS:0035955486

VL - 312

SP - 165

EP - 168

JO - Neuroscience Letters

JF - Neuroscience Letters

SN - 0304-3940

IS - 3

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this