Conference--Neuronal Ceroid Lipofuscinosis

描述(由申请人提供)： 为将于2003年4月10日至2003年4月13日在伊利诺伊州芝加哥举行的第九届国际Ceroid Lipofuscinoses大会寻求会议支持。神经元Ceroid Lipofuscinoses(Batten病)是一组遗传性神经退行性疾病，以失明、反复发作和进行性严重精神发育迟缓为特征。它们是儿童最常见的神经退行性疾病，其病理特征是自身荧光色素的积聚，主要是在神经元中。在过去的7年里，至少有8种不同基因的突变被证明会导致一种巴顿病。其中棕榈酰基蛋白硫酯酶(PPT1)和三肽基肽酶(TPP 1)分别在CLN1和CLN2中发生突变，表现为溶酶体水解酶。CLN3、5、6和8中涉及的基因编码未知功能的膜蛋白。NC1的动物模型是由组织蛋白酶D的突变产生的，工作假设是所有这些基因都编码了参与神经元蛋白细胞内运输的蛋白质，这些蛋白质最终将进行分解代谢。各种形式NCL转基因动物模型的发展为治疗努力带来了令人兴奋的新见解和载体。会议将重点讨论人类遗传学、诊断学、细胞内贩运的机制以及如何利用这些信息制定治疗策略。重点将放在药物、基因和干细胞疗法上。会议的重要性在于，它以独特的方式将来自世界各地的资深科学家和初级调查人员聚集在一起，以促进研究数据的交流，并促进今后旨在消除这类毁灭性疾病的合作努力。

DESCRIPTION (provided by applicant): Conference Support is sought for the Ninth International Congress on the Ceroid Lipofuscinoses to be held in Chicago, Illinois from April 10, 2003 to April 13, 2003. Neuronal Ceroid Lipofuscinoses (Batten Disease) are a group of inherited neurodegenerative disorders characterized by blindness, recurrent seizures and progressive, severe mental retardation. They are the most common neurodegenerative diseases of children and their pathological hallmark is the accumulation of auto fluorescent pigment, primarily in neurons. In the last 7 years, mutations in at least 8 different genes have been shown to result in a form of Batten disease. Two of these, palmitoyl; protein thioesterase (PPT1) and tripeptidylpeptidase (TPP 1) are mutated in CLN1 and CLN2 respectively and behave as lysosomal hydrolases. The genes involved in CLN3, 5, 6 and 8 code for membrane proteins of unknown function. An animal model of NC1 results from mutations in cathepsin D and the working hypothesis is that all these genes code for proteins involved in intracellular trafficking of neuronal proteins destined for catabolism. The development of transgenic animal models of the various forms of NCL has led to exciting new insights and vehicles for therapeutic endeavors. The Conference will focus on human genetics, diagnostics, mechanisms of intracellular trafficking and how this information can be used to devise therapeutic strategies. Particular emphasis will be put on drug, gene and stem-cell based therapies. The importance of the Conference is that it uniquely brings together senior scientists and junior investigators from all parts of the globe to foster exchange of research data and to stimulate future collaborative efforts aimed at eliminating this group of devastating diseases.