Insights into Amyotrophic Lateral Sclerosis Risk Factors Revealed by Epigenomic Analysis

May 03, 2024

The exact triggers behind amyotrophic lateral sclerosis (ALS) remain elusive for most patients, despite the disease's hallmark motor neuron degeneration leading to muscle control impairment and eventual fatality. While certain genes have been identified as increasing ALS risk, many more genetic factors are presumed undiscovered. 

Discovering these factors poses challenges, particularly when they are rare among patients, necessitating extensive sample sizes. Moreover, epigenomic influences, rather than mutations in protein-coding genes, may contribute to risk. Collaborating with the Answer ALS consortium, MIT researchers scrutinized epigenetic modifications in motor neurons derived from induced pluripotent stem cells from 380 ALS patients. Their analysis pinpointed a robust differential signal associated with a recognized ALS subtype, along with approximately 30 modified sites correlated with disease progression rates. These findings hold promise for tailored treatments aimed at patients with specific genetic risk profiles.

SOURCE: https://news.mit.edu/2024/epigenomic-analysis-sheds-light-als-risk-factors-0502 

CREDITS: MASSACHUSETTS INSTITUTE OF TECHNOLOGY