Anorexia nervosa (AN) is a mental disorder marked by a significantly low body weight. Differentially methylated CpG sites have been reported to be involved in body weight regulation. Methylation patte Show more
Anorexia nervosa (AN) is a mental disorder marked by a significantly low body weight. Differentially methylated CpG sites have been reported to be involved in body weight regulation. Methylation pattern may change during considerable weight gain by in-patient treatment. Consequently, we aimed to (1) replicate the hypomethylation at the NR1H3 gene locus (identified in our previous epigenome-wide association study) in independent study groups of 189 female patients with AN and 67 healthy-lean female controls, and (2) identify regions associated with large weight gain associated DNA methylation changes in three patients with AN through whole-genome bisulfite sequencing in CD14 Show less
Mutations or triplication of the alpha synuclein (ASYN) gene contribute to synucleinopathies including Parkinson's disease (PD), Dementia with Lewy bodies (DLB) and multiple system atrophy (MSA). Rece Show more
Mutations or triplication of the alpha synuclein (ASYN) gene contribute to synucleinopathies including Parkinson's disease (PD), Dementia with Lewy bodies (DLB) and multiple system atrophy (MSA). Recent evidence suggests that ASYN also plays an important role in amyloid-induced neurotoxicity, although the mechanism(s) remains unknown. One hypothesis is that accumulation of ASYN alters endolysosomal pathways to impact axonal trafficking and processing of the amyloid precursor protein (APP). To define an axonal function for ASYN, we used a transgenic mouse model of synucleinopathy that expresses a GFP-human ASYN (GFP-hASYN) transgene and an ASYN knockout (ASYN Show less