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

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 compar...

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Veröffentlicht in:Neuroscience letters 2001-10, Vol.312 (3), p.165-168
Hauptverfasser: Kato, Masaaki, Aoki, Masashi, Ohta, Michiya, Nagai, Makiko, Ishizaki, Fumiko, Nakamura, Shigenobu, Itoyama, Yasuto
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Sprache:eng
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Zusammenfassung: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.
ISSN:0304-3940
1872-7972
DOI:10.1016/S0304-3940(01)02212-1