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Updated: Dec 16, 2025
08:59
Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
Published on: July 16, 2021
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Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis
John P Franklin1, Johnathan Cooper-Knock1, Aravindhan Baheerathan2
1Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
Summary
Amyotrophic lateral sclerosis (ALS) may involve sodium channel dysfunction. Researchers found ALS-associated mutations in the SCN7A gene, suggesting a potential new therapeutic target for this neurodegenerative disease.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disease with significant heritability.
- Skeletal muscle sodium channelopathies, caused by SCN4A mutations, are inherited ion channel disorders.
Purpose of the Study:
- To investigate the potential link between sodium channelopathies and ALS.
- To identify genetic associations between ALS and sodium channel genes.
Main Methods:
- Clinical and genetic analysis of two patients with concurrent ALS and a sodium channel disorder.
- Whole genome sequencing of 4495 ALS patients and 1925 controls.
- Statistical analysis using Firth logistic regression to identify significant genetic variants.
Main Results:
- Identified concurrence of ALS and skeletal muscle sodium channelopathies in two patients, suggesting shared pathophysiology.
- Found an enrichment of ALS-associated mutations in the SCN7A gene in ALS patients compared to controls (p=0.0002).
Conclusions:
- Dysfunctional sodium channels, particularly SCN7A, may contribute to ALS pathogenesis in a subset of patients.
- These findings open possibilities for novel, personalized medicine approaches in ALS treatment.
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