Fragile X Syndrome: Banbury Conferences

描述（研究者摘要）：本提案的目的是举行一次 一系列的五个年度跨学科会议的基础和临床 脆性X综合征（FXS）这些会议将仿照 在冷泉的班伯里会议中心举行的首次会议上， Harbor Laboratory，and冷泉港，NY.会议的目的是 汇集了广泛的科学家，无论是那些工作在FXS和 其他人在相关的领域。另一个目标是引进年轻的 科学家到该地区。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区域的扩张， 三核苷酸重复其FMR-1基因的5'非翻译启动子区， 导致胞嘧啶残基的超甲基化和基因沉默。一 该综合征的小鼠FMR-1敲除模型是可用的。的功能 脆性X智力低下蛋白（FMRP）尚不清楚，但最近 被证明是翻译的突触，以响应激活的 代谢受体的神经递质谷氨酸。相对细微的 该疾病的表型效应见于几个脑的大体尺寸， 区域和突触的精细结构中。作为第一届班伯里会议 ”（注：见第二节）。C），我们对这种疾病的认识的进步 发生得非常迅速。没有专门讨论基本问题的会议， 和临床研究，参与者发现了第一个班伯里 会议非常有价值。有人提议，今后的会议应 由领先的研究人员和临床医生组成的委员会组织， 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.