Researchers identified a new SOD1 variant in a Japanese family with familial ALS
Original source
Novel in-frame duplication variant of SOD1 in a Japanese family with familial amyotrophic lateral sclerosis. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Study type
- Case report
- Studied in
- Human
Related topics
A study identified a previously unreported in-frame duplication variant in the SOD1 gene in three members of a Japanese family with familial amyotrophic lateral sclerosis (ALS). The patients had mainly lower motor neuron involvement, asymmetric leg symptoms and relatively rapid muscle weakness and respiratory decline. Structural modelling predicted that the variant may alter SOD1 structure and copper binding, while tissue from one patient showed misfolded SOD1 aggregates.
Why this matters
The findings may help researchers understand how this SOD1 variant contributes to ALS. They do not establish that the variant causes disease in other families or change treatment for patients now.
Limitations and context
This was a case report of one family involving three patients, supported by genetic, laboratory and computational analyses. The structural effects were predicted in silico, so they still need confirmation in further experimental and clinical studies.