Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis.

ABSTRACT: Long interspersed element-1 (LINE-1/L1) is the only autonomous transposable element in the human genome that currently mobilises in both germline and somatic tissues. Recent studies have identified correlations between altered retrotransposon expression and the fatal neurodegenerative disease amyotrophic lateral sclerosis (ALS) in a subset of patients. The risk of an individual developing ALS is dependent on an interaction of genetic variants and subsequent modifiers during life. These modifiers could include environmental factors, which can lead to epigenetic and genomic changes, such as somatic mutations, occurring in the neuronal cells that degenerate as the disease develops. There are more than 1 million L1 copies in the human genome today, but only 80-100 L1 loci in the reference geno

SUBMITTER: Savage AL 

PROVIDER: S-EPMC7666467 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature