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...
Gespeichert in:
Veröffentlicht in: | Neuroscience letters 2001-10, Vol.312 (3), p.165-168 |
---|---|
Hauptverfasser: | , , , , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
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 |