FOLIC ACID AND BETAINE FOR ANGELMAN SYNDROME

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。两种已经被证明可以增加老鼠体内甲基化的药物正在被用来观察它们是否能在人类身上产生同样的效果，以及甲基化的增加是否能改善天使人综合症。正在试验的两种药物（叶酸和甜菜碱）实际上是维生素补充剂，有长期的安全记录。如果使用大剂量，维生素有望在不产生副作用的情况下增加甲基化。另一方面，有证据表明叶酸可能会增加癫痫发作。此外，甲基化机制尚不清楚，它可能会导致染色体逆转其活性。重要的是要做一项安慰剂对照研究，以找出这些药物对患有天使综合症的儿童是有益还是有害。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Two agents that have been shown to increase methylation in mice are being used to see if they can produce the smae effect in humans, and if increased methylation results in any improvement in Angelman Syndrome. The two drugs that are being tried (folic acid and betaine) are actually vitamin supplements that have a long track record of safety. Used in mega-doses, there is hope that the vitamins will increase methylation without creating side-effects. On the other hand, there is some evidence that folic acid may increase seizures. In addition, the methylation mechanism is not well understood, and it many cause the chromosome to reverse its activity. It is crucial to do a placebo-controlled study to find out whether these medications are beneficial or detrimental to children with Angelman Syndrome.