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Background  Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol  UBE3A ) mapping to chromosome 15q11-q13. AS leads to stiff and jerky gait, excess laughter, seizures, and severe intellectual disability. In some parts of the brain, the paternally inherited  UBE3A  gene is subject to genomic imprinting by the action of the  UBE3A -antisense transcript ( UBE3A-ATS ) on the paternally inherited allele. Consequently, only the maternally inherited  UBE3A  gene is expressed in mature neurons. AS occurs due to deletions of the maternal 15q11 − 13 region, paternal uniparental disomy (UPD), imprinting center defects, mutations in the maternal  UBE3A  gene, or other unknown genetic malfunctions that result in a silenced maternal  UBE3A  gene in the specific imprinted regions of the brain.    Results  A potential treatment strategy for AS is to increase methylation of  UBE3A-ATS  to promote expression of the paternal  UBE3A  gene and thus ameliorate the clinical phenotypes of AS. We treated two sets of male identical twins with class I deletions with a 1 year treatment trial of either betaine and folic acid versus placebo. We found no statistically significant changes in the clinical parameters tested at the end of the 1 year trial, nor did we find any significant adverse events.    Conclusions  This study tested the hypothesis that by increasing the methylation of the  UBE3A- antisense transcript in Angelman syndrome to promote expression of the silenced paternal  UBE3A  gene we may ameliorate the clinical phenotypes of AS. We treated two sets of identical twins with placebo versus betaine and folic acid. Although this study represented a novel approach to treating Angelman syndrome, the differences in the developmental testing results was not significant. This paper also discusses the value of monozygotic twin studies in minimizing confounding variables and its utility in conducting small treatment studies.    Trial registration   NCT00348933 . Registered 6 July 2006.

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome