DNA methylation study of the C9orf72 repeat expansion causing frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). University of Antwerp
Expansions of a G4C2 repeat in the C9orf72 promoter are the most common causes of FTLD and ALS but the disease mechanism is unclear. We will investigate the role of a loss-of-function mechanism by methylation studies of the C9orf72 promoter. We will evaluate whether growing repeat length is correlated with the methylation level of the repeat region. If CpG methylation plays a role in the disease, this might be a potential therapeutic avenue.