Actio biosciences5/1/2023 ![]() Their work has increased the number of identified ALS risk loci to 15, while also confirming previously identified risk genes. 1 present the largest genome-wide association study (GWAS) of ALS so far and include a comprehensive screen for pathogenic rare variants to prioritize causal genes. In this issue of Nature Genetics, van Rheenan et al. Thus, research into novel therapeutic strategies targeting ALS may also potentially reveal insights for treating other diseases with similar and overlapping clinical features. The shared symptomology between ALS and more prevalent neurodegenerative diseases suggests some overlap of pathogenic mechanisms and potential predispositions to brain diseases 1. Although considered a motor neuron disease, cognitive and behavioral abnormalities are often clinically observed in ALS. Despite this progress, the implicated genes and genomic regions have not led to definitive insights into ALS disease pathogenesis. Studies of common variants have also identified genomic regions carrying variants conferring a more modest effect on risk. Genetic studies have implicated both rare variants of major effect in a number of ‘ALS genes’, including the first identified gene superoxide dismutase 1 ( SOD1). One in ten diagnosed patients with ALS have a family history of the disease, strongly indicating genetic predisposition. There are currently no approved disease-modifying treatments for ALS. Neuronal degeneration and the subsequent neuronal death lead to progressive paralysis within years. Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive and fatal neurodegenerative disease.
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