Arthur Beaudet Baylor College of Medicine A Therapeutic Trial of Folate and Betaine in Angelman Syndrome
$62,903
One of the unique aspects of the brain problem in AS is that only the UBE3A on the maternally inherited number 15 chromosome is disrupted. The other UBE3A, located on the paternally derived chromosome, is silenced by a control mechanism that involves changes in the DNA and its surrounding proteins. These changes are influenced by differences in their “methylation” status. Methyl molecules (e.g., with the chemical formula of CH3) are important regulators of gene action. ASF has supported attempts to change the methylation status of the UBE3A by providing dietary supplements that increased methyl availability. Two of these agents are folic acid and trimethylamine (Betaine) and this was the earliest human drug trial ever conducted on AS. The result showed minimal benefit of this type of therapy but the study laid the foundation for future therapeutic trials.