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Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene
H Takahashi1, T Makifuchi, R Nakano
1Niigata University, Department of Pathology, Japan.
Abstract:
Several missense mutations within exons 1, 2, 4 and 5 of the gene for Cu/Zn-binding superoxide dismutase (SOD1) have been discovered to be involved in the development of chromosome 21q-linked familial amyotrophic lateral sclerosis (FALS). We describe here an autopsied patient with FALS, in whom we have recently identified a novel missense mutation in exon 1 of the SOD1 gene. The neuropathological findings were compatible with those described previously in patients with FALS with posterior column involvement. This suggests that mutations of the SOD1 gene may be responsible for this form of FALS.
Insights
Researchers identified a new mutation in the Cu/Zn-binding superoxide dismutase (SOD1) gene in a patient with familial amyotrophic lateral sclerosis (FALS). This finding supports SOD1 mutations as a cause of FALS with posterior column involvement.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Familial amyotrophic lateral sclerosis (FALS) is linked to chromosome 21q.
- Missense mutations in the Cu/Zn-binding superoxide dismutase (SOD1) gene are implicated in FALS.
- Specific exons (1, 2, 4, 5) of the SOD1 gene are known mutation sites.