FOLIC ACID AND BETAINE FOR ANGELMAN SYNDROME

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 两种已被证明会增加小鼠甲基化的药物正在被用来研究它们是否能在人类身上产生同样的效果，以及增加甲基化是否会改善Angelman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，在安全性方面有很长的记录。在大剂量使用时，这些维生素有望增加甲基化，而不会产生副作用。另一方面，有一些证据表明，叶酸可能会增加癫痫发作。此外，甲基化机制还不是很清楚，它可能会导致染色体逆转其活性。关键是要进行一项安慰剂对照研究，以找出这些药物对患有安杰曼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 same 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 may 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.