A Therapeutic Trial of Pro-Methylation Dietary Supplements in Angelman Syndrome

摘要

Angelman syndrome (AS) Is due to deficient ubiquitin protein ligase 3a, the gene for which (UBE3A) maps to chromosome 15q11-ql3 and is imprinted such that only the maternally inherited gene is expressed. The paternally inherited UBE3A gene Is silenced, a process mediated by an antisense transcript. We conducted a trial using methylation-promoting dietary supplements (betaine, metafolin, creatine, and vitamin B_12) in an attempt to reduce antisense transcript production, increase UBE3A expression, and ameliorate the symptoms of AS. Neuro-psychological evaluations, biochemical testing, and assessment of DNA inethylation were performed at the beginning and at the end of 1 year of supplementation.