ALS7 (Amyotrophic Lateral Sclerosis 7) is a genetic locus associated with familial amyotrophic lateral sclerosis (FALS). It was identified through genetic linkage studies in families with autosomal dominant inheritance patterns of ALS. The ALS7 locus represents one of several genetic factors contributing to ALS susceptibility and pathogenesis, highlighting the complex genetic architecture of this neurodegenerative disorder. [1]
While the precise normal function of the ALS7 gene product remains under investigation, research suggests involvement in: [2]
ALS7 expression has been detected in: [3]
The ALS7 locus shows conservation across mammalian species, suggesting important functional roles. Orthologous genes are found in mice and other model organisms, enabling research into disease mechanisms. [4]
ALS7 is associated with familial ALS through multiple lines of evidence: [5]
Genetic linkage: The ALS7 locus on chromosome 20p13 was identified in large ALS families showing autosomal dominant inheritance. Multiple families have been reported with ALS7-linked disease.
Phenotypic characteristics: ALS7-associated ALS typically presents with:
Variable expressivity: ALS7 shows incomplete penetrance and variable expressivity, with some carriers remaining asymptomatic into late adulthood. This suggests involvement of modifier genes and environmental factors.
ALS7 has been associated with:
ALS7 represents one of over 30 genes implicated in ALS:
ALS7 may interact with these other genetic factors through shared pathways including:
Research on ALS7 pathogenic mechanisms is ongoing, with several hypotheses under investigation:
Key research on ALS7:
ALS7 testing is available through clinical genetic testing laboratories:
Indications:
Testing methods:
Interpretation:
Currently, ALS7-specific clinical trials are limited, but general ALS trials include patients with various genetic subtypes. Ongoing research aims to develop gene-specific therapies.
Chen et al. A novel locus for familial amyotrophic lateral sclerosis on chromosome 20p13, Neurology (2010). 2010. ↩︎
Sapp et al. Novel gene (ALS7) for familial amyloeuropathy, Am J Hum Genet (2003). 2003. ↩︎
Conforti et al. Familial ALS in Italy: a reappraisal of ALS7, Neurology (2008). 2008. ↩︎
Lattante et al. Contribution of major ALS genes to familial ALS in Italy, J Neurol Sci (2015). 2015. ↩︎
Cirulli et al. Exome sequencing in familial aggregation of ALS, Science (2015). 2015. ↩︎