Clinical and genetic characteristics of ALS patients with variants in genes regulating DNA methylation.

Tianmi YangQianqian WeiDejiang PangYangfan ChengJingxuan HuangJunyu LinYi XiaoQirui JiangShichan WangChunyu LiHui Fang Shang

Published in: Journal of neurology (2024)

This study provides a genetic variant profile of genes involved in DNA methylation and demethylation regulation, along with the clinical characteristics of ALS patients carrying these variants. The findings offer genetic evidence implicating disrupted DNA methylation dynamics in ALS.

Keyphrases

genome wide
dna methylation
copy number
gene expression
amyotrophic lateral sclerosis
end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
prognostic factors
peritoneal dialysis
patient reported outcomes