FOLIC ACID AND BETAINE FOR ANGELMAN SYNDROME

叶酸和甜菜碱治疗天使综合症

• 批准号: 7607244
• 负责人: VIRGINIA Eunice KIMONIS
• 金额: $ 0.22万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-04-01 至 2008-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7607244
• 关键词: Adverse effects; Angelman Syndrome; Betaine; Child; Chromosomes; Computer Retrieval of Information on Scientific Projects Database; Dose; Folic Acid; Funding; Grant; Hand; Human; Institution; Methylation; Mus; Pharmaceutical Preparations; Research; Research Personnel; Resources; Safety; Seizures; Source; United States National Institutes of Health; Vitamins; placebo controlled study

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.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 两种已证明在小鼠中增加甲基化的药物被用来查看它们是否可以在人类中产生相同的作用，并且甲基化增加会导致Angelman综合征的任何改善。 正在尝试的两种药物（叶酸和甜菜碱）实际上是维生素补充剂，具有很长的安全记录。 在大剂量中使用，希望维生素会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。 另外，甲基化机制尚不清楚，它可能导致染色体扭转其活性。 进行安慰剂对照研究至关重要，以找出这些药物是对安吉尔曼综合症儿童有益还是有害。