MYOINOSITOL ON CEREBELLAR FUNCTION IN PATIENTS WITH ATAXIA TELANGIECTASIA

肌醇对共济失调毛细血管扩张患者小脑功能的影响

• 批准号: 6219826
• 负责人: Gerard Thomas Berry
• 金额: $ 0.06万
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6219826
• 关键词: T lymphocyte; age difference; ataxia telangiectasia; biological signal transduction; brain disorder chemotherapy; cerebellar disorders; clinical research; clinical trials; dietary supplements; drug screening /evaluation; gene mutation; human subject; human therapy evaluation; nutrition related tag; phosphatidylinositols

The autosomal recessive disorder, Ataxia Telangiectasia (AT), results in cerebellar ataxia, immunodeficiency and cancer. The defective gene, ATM, encodes a large protein which appears to be confined to the nucleus of the host cells and plays a role in DNA repair which is defective in AT. The goals of this project are to: 1) characterize the cerebellar dysfunction in patients of different ages and with different ATM gene mutations; 2) characterize the T-cell abnormalities in patients; 3) measure the levels of the myo-inositol and the phosphoinositides in cells; 4) determine whether any of the clinical or laboratory abnormalities can be reversed by supplying for 1 month more of the phosphoinositide precursor, myo-inositol, to patients as part of their daily diet. This will be accomplished by performing a placebo controlled, double-blind crossover study in which at the beginning and end of each month the crebellar and T-cell studies will be performed as well as the measurement of phosphoinsoitides and myo-inositol in cells.

常染色体隐性遗传病，共济失调毛细血管扩张症(AT)，导致小脑性共济失调、免疫缺陷和癌症。这个有缺陷的基因ATM编码一种大蛋白，它似乎局限于宿主细胞的核，并在AT中有缺陷的DNA修复中发挥作用。该项目的目标是：1)确定不同年龄和不同ATM基因突变患者的小脑功能障碍；2)确定患者的T细胞异常；3)测量细胞中肌醇和肌醇的水平；4)确定是否可以通过在患者的日常饮食中增加1个月的肌醇前体肌醇来逆转任何临床或实验室异常。这将通过进行安慰剂对照的双盲交叉研究来实现，在该研究中，在每个月的开始和结束时，将进行克隆脑和T细胞研究，以及测量细胞中的磷脂酰肌醇和肌醇。