Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.

ABSTRACT:

Background

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the loss of upper and lower motor neurons, leading to progressive weakness of voluntary muscles, with death following from neuromuscular respiratory failure, typically within 3 to 5 years. There is a strong genetic contribution to ALS risk. In 10% or more, a family history of ALS or frontotemporal dementia is obtained, and the Mendelian genes responsible for ALS in such families have now been identified in about 50% of cases. Only about 14% of apparently sporadic ALS is explained by known genetic variation, suggesting that other forms of genetic variation are important. Telomeres maintain DNA integrity during cellular replication, differ between sexes, and shorten naturally with age. Sex

SUBMITTER: Al Khleifat A 

PROVIDER: S-EPMC9799999 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature