of 60%. Only about 14% of apparently sporadic ALS is explained by known genetic variation, suggesting that other forms of genetic variation are important, in addition to the known risk factors, male sex and increasing age. Telomeres maintain DNA integrity during cellular replication, differ between sexes, and shorten naturally with age. We find that longer telomeres are associated with ALS and specific phenotypic patterns of disease expression. We see the same pattern of telomere elongation in ALS in brain tissue. The association of longer telomeres with apparently sporadic ALS was also seen in people with familial ALS, supporting the notion that sporadic and familial ALS are not mutually exclusive categories but rather a spectrum.
|Journal||Frontiers in cellular neuroscience|
|Publication status||Published - 15 Nov 2022|
- Amyotrophic Lateral Sclerosis (ALS)
- Whole genome sequence (WGS
- Big Data