A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.

  title={A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.},
  author={Lynne M. Bird and Wen-Hann Tan and Carlos A Bacino and Sarika U Peters and Steven A Skinner and Irina Anselm and Rene L Barbieri-Welge and Astrid Bauer-Carlin and Jennifer K Gentile and Daniel Gordon Glaze and Lucia T Horowitz and Kommu Naga Mohan and Mark P Nespeca and Trilochan Sahoo and Dean Sarco and Susan E Waisbren and Arthur L Beaudet},
  journal={American journal of medical genetics. Part A},
  volume={155A 12},
Angelman syndrome (AS) is due to deficient ubiquitin protein ligase 3a, the gene for which (UBE3A) maps to chromosome 15q11-q13 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… CONTINUE READING
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