AAT Deficiency & Liver Diseases Caused by Proteins

AAT 缺乏症

基本信息

批准号：
7114520
负责人：
Bruce C Trapnell
金额：
$ 3万
依托单位：
ALPHA-1 FOUNDATION
依托单位国家：
美国
项目类别：
财政年份：
2006
资助国家：
美国
起止时间：
2006-02-21 至 2007-12-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7114520
关键词：
alpha 1 antitrypsin deficiency inborn metabolism disorder liver disorder meeting /conference /symposium molecular pathology protein folding travel

项目摘要

DESCRIPTION (provided by applicant): The Alpha-1 Foundation (A1F) and the American Association for the Study of Liver Diseases (AASLD) are organizing a Basic Research Single Topic Conference entitled "Alpha-1 Antitrypsin Deficiency and Other Liver Diseases Caused by Aggregated Proteins" on January 26-28, 2006. This conference focuses on an important, emerging topic: the molecular pathogenesis and therapy for Alpha-1 Antitrypsin (AAT) Deficiency and other inherited metabolic disorder of protein folding. The conference will include presentations by internationally recognized experts on the molecular pathogenesis of AAT Deficiency and other liver diseases associated with aggregated proteins. A primary goal is to stimulate a deeper understanding of the molecular mechanisms underlying these liver diseases to review and explore potential therapeutic approaches. This Basic Research Single Topic Conference is the culmination of an ongoing collaboration between the A1F and AASLD designed to to increase awareness of AAT Deficiency as well as increase the overall understanding of the underlying pathogenesis for a number of different liver diseases. This conference builds upon several previous symposia and conferences that the A1F and AASLD have held since 2000, including Alpha-1 Antitrypsin Deficiency and Other Conformational Diseases (June, 2000) and symposia during the 2003 and 2004 AASLD Annual Meetings on the Hepatotoxicity associated with Alpha-1 and Other Liver Diseases, and Insights into Metabolic Diseases. The 2006 conference will examine the recent contributions from basic research over the past 5 years that have improved our understanding of the mechanisms by which glycoproteins such as alpha-1 antitrypsin are correctly folded within the endoplasmic reticulum. The conference is also predicated by clinical data that is beginning to emerge that may explain the molecular basis for why some individuals with AAT Deficiency get liver disease and some do not. Another focus of the conference is the significant work in translational liver research that combines gene transfer technology and cell biology to create and evaluate hepatocyte transplantation therapeutic strategies for end stage liver diseases. The identified goals of the conference are to: 1) Understand the molecular biology of protein folding, the role of the protein degradation system, and the consequences of misfolding of specific proteins seen in several clinical disorders; 2) Discuss the current concepts of the molecular mechanisms responsible for liver injury in patients with Alpha-1 Antitrypsin Deficiency; 3) Explain the current molecular approaches underway to develop effective therapies to treat the liver manifestations of Alpha-1 Antitrypsin Deficiency and other disorders involving protein misfolding.

描述（由申请人提供）： Alpha-1 基金会 (A1F) 和美国肝病研究协会 (AASLD) 将于 1 月 26 日至 28 日组织一次基础研究单主题会议，题为“Alpha-1 抗胰蛋白酶缺乏症和聚集蛋白引起的其他肝脏疾病” ，2006 年。本次会议重点讨论一个重要的新兴主题：α-1 抗胰蛋白酶 (AAT) 缺乏症和其他遗传性蛋白质代谢紊乱的分子发病机制和治疗折叠式的。会议将包括国际知名专家关于 AAT 缺乏症和其他与聚集蛋白相关的肝脏疾病的分子发病机制的演讲。主要目标是促进对这些肝脏疾病背后的分子机制的更深入了解，以审查和探索潜在的治疗方法。本次基础研究单一主题会议是 A1F 和 AASLD 之间持续合作的结晶，旨在提高对 AAT 缺乏症的认识，并增进对多种不同肝脏疾病潜在发病机制的整体了解。本次会议以 A1F 和 AASLD 自 2000 年以来举办的几次专题讨论会和会议为基础，包括 Alpha-1 抗胰蛋白酶缺乏症和其他构象疾病（2000 年 6 月）以及 2003 年和 2004 年 AASLD 年会期间关于与 Alpha 相关的肝毒性的专题讨论会-1 和其他肝脏疾病，以及代谢疾病的见解。 2006 年会议将审查过去 5 年中基础研究的最新贡献，这些贡献提高了我们对糖蛋白（如 α-1 抗胰蛋白酶）在内质网内正确折叠的机制的理解。这次会议还以开始出现的临床数据为基础，这些数据可能解释为什么一些患有 AAT 缺乏症的人会患上肝病，而另一些人不会患上肝病。会议的另一个焦点是转化肝脏研究方面的重要工作，该研究将基因转移技术和细胞生物学相结合，以创建和评估终末期肝病的肝细胞移植治疗策略。会议确定的目标是： 1) 了解蛋白质折叠的分子生物学、蛋白质降解系统的作用以及几种临床疾病中特定蛋白质错误折叠的后果； 2) 讨论目前关于α-1抗胰蛋白酶缺乏症患者肝损伤的分子机制的概念； 3) 解释目前正在进行的分子方法，以开发有效的疗法来治疗 Alpha-1 抗胰蛋白酶缺乏症和其他涉及蛋白质错误折叠的疾病的肝脏表现。