Fragile X Syndrome: Banbury Conferences

描述(调查人员摘要)：这项提案的目的是举行 关于基础和临床的五个年度跨学科会议系列 脆性X综合征(FXS)相关研究。这些会议将以 在冷泉班伯里会议中心举行的第一次会议上 港湾实验室和纽约州冷泉港。这些会议的目的是 将范围广泛的科学家聚集在一起，包括从事FXS和 其他在盟国相关领域的人。另一个目标是引进年轻的 科学家们来到这一地区。脆性X综合征是第二大遗传原因 精神发育迟滞。它的产生是由于一个不稳定的区域的扩张 三核苷酸重复FMR-1基因的5‘未翻译启动子区域， 导致胞嘧啶残基的高度甲基化和基因沉默。一个 小鼠铁磁共振-L基因敲除模型适用于该证候。的功能 脆性X智力低下蛋白(FMRP)目前尚不清楚，但最近发现 已经被证明是对激活的反应的翻译的al突触 神经递质谷氨酸的代谢性受体。相对微妙 这种疾病的表型效应可以在几个大脑的大体大小中看到 在突触的精细结构中。作为第一届班伯里会议 指示(以秒为单位汇总C)，我们对这种疾病的认识取得了进展 发生得非常快。没有专门讨论BASIC的会议 和FXS的临床研究，参与者发现了第一个班伯里 会议非常有价值。有人提议，未来的会议将是 由顶尖研究人员和临床医生组成的委员会组织，下一个 会议的重点是脆性X综合征的神经基础。

DESCRIPTION (Investigator's abstract): The aim of this proposal is to hold a series of five annual interdisciplinary conferences on basic and clinical research relevant to fragile X syndrome (FXS). These meetings will be modeled on an initial conference held at the Banbury Conference Center, Cold Spring Harbor Laboratory, and Cold Spring Harbor, NY. The conferences are intended to bring together a broad range of scientists, both those working on FXS and others in allied, relevant fields. Another goal is to introduce young scientists to the area. Fragile X syndrome is the second leading genetic cause of mental retardation. It arises due to expansion of an unstable region of trinucleotide repeats it the 5' untranslated promoter region of the FMR-1 gene, causing hypermethylation of cytosine residues and silencing of the gene. A mouse FMR-l knockout model for the syndrome is available. The function of the fragile X mental retardation protein (FMRP) is not known, but it has recently been shown to be translated al synapses in response to activation of metabotropic receptors by the neurotransmitter glutamate. Relatively subtle phenotypic effects of the disorder are seen in the gross size of several brain regions and in the fine structure of synapses. As the first Banbury Conference indicated (summarized in Sec. C), advances in our knowledge of this disorder are occurring very rapidly. There is no meeting devoted exclusively to basic and clinical research on FXS, and the participants found the first Banbury Conference extremely valuable. It is about proposed that future conferences be organized by a committee of leading researchers and clinicians, with the next meeting focused upon the neural basis of fragile X syndrome.