A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis
| Autor: | Satoshi Kohno, Hiroaki Miyajima, Koichi Mizoguchi, Yoshitomo Takahashi, Masahiro Serizawa |
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| Rok vydání: | 1999 |
| Předmět: |
Male
Genetics biology Superoxide Dismutase General Neuroscience Amyotrophic Lateral Sclerosis Nonsense mutation SOD1 Mutation Missense Exons Middle Aged medicine.disease Molecular biology Pedigree Superoxide dismutase Exon Mutation (genetic algorithm) biology.protein medicine Humans Missense mutation Female Amyotrophic lateral sclerosis Gene Polymorphism Single-Stranded Conformational |
| Zdroj: | Neuroscience Letters. 276:135-137 |
| ISSN: | 0304-3940 |
| DOI: | 10.1016/s0304-3940(99)00803-4 |
| Popis: | Autosomal-dominant familial amyotrophic lateral sclerosis (FALS) is associated with mutation in the gene that encodes Cu/Zn superoxide dismutase (SOD1). We identified a novel missense mutation of SOD-1 (Cys6Gly) in exon 1 in a Japanese woman and her family. The illness showed rapid progression similarly to the FALS with a mutation of Cys6Phe that was reported by Morita et al. (1996) (Morita, M., Aoki, M., Abe, K., Hasegawa, T., Sakuma, R., Onodera, Y., Ichikawa, N., Nishizawa, M. and Itoyama, Y., A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. Neurosci. Lett., 205 (1996) 79-82). Mutation of the cystein at amino acid 6 might be associated with the rapid progression of ALS. |
| Databáze: | OpenAIRE |
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