SYMPOSIUM OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE

6-磷酸葡萄糖脱氢酶研讨会

• 批准号: 3435564
• 负责人: AKIRA Y YOSHIDA
• 金额: $ 2.85万
• 依托单位: CITY OF HOPE NATIONAL MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 1985
• 资助国家: 美国
• 起止时间: 1985-04-01 至 1985-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3435564
• 关键词: chemical structure function; congenital hemolytic anemia; erythrocytes; glucose 6 phosphate dehydrogenase; glucose 6 phosphate dehydrogenase deficiency; human population genetics; meeting /conference /symposium; molecular pathology; sex linked trait; travel

This application proposes a scientific meeting on glucose-6-phosphate dehydrogenase (G6PD). Since the association of X-linked G6PD deficiency in red cells with chronic and drug/food-induced hemolytic anemia was found in mid-1950, both clinical and basic studies of this problem were greatly advanced. G6PD variation is the most prevalent and and heterogeneous human enzyme abnormality, and the major cause of hemolytic problems. The underlying mechanism of hemolysis due to G6PD deficiency, and kinetic and structural abnormalities of variant human G6PDs were extensively studied. Specific molecular abnormalities were defined in several G6PD variants. The hypothesis of "X-inactivation" was first proposed based on heterogeneity of heterozygous female red cells. G6PD became an important gene marker and tool for the study of X-inactivation, pathogenesis, aging and development, and several important discoveries were made in this field. Our knowledge of structure, function, hormonal and developmental control of G6PD and Hexose-6-phosphate dehydrogenase (H6PD) in non-human organisms were also advanced. Studies of the molecular biology of G6PD were extended in recent years, i.e. complete structure of normal human G6PD was determined and cDNA was cloned. The symposium proposed aims to define our current status of knowledge of: a) relationships of clinical manifestations of hemolytic anemia, red cell metabolism, and G6PD deficiency; b) G6PD variations and frequencies in various populations; c) structure, function and molecular biology of G6PD and G6PD locus; d) structural and functional abnormalities of G6PD variants; e) X-inactivation and pathogenesis studies using G6PD as a marker; and f) structure and function of G6PD in non-human organisms, hormonal and nutritional regulation, and evolution of G6PD and H6PD.

本申请提议召开关于葡萄糖-6-磷酸的科学会议 脱氢酶（G6PD）。 由于 X 连锁 G6PD 缺陷与 发现患有慢性和药物/食物引起的溶血性贫血的红细胞 1950年中期，对该问题的临床和基础研究都取得了很大进展。 先进的。 G6PD 变异是人类最普遍且异质的变异 酶异常，是溶血问题的主要原因。 这 G6PD 缺乏导致溶血的潜在机制，以及动力学和 人类 G6PD 变异体的结构异常得到了广泛研究。 几种 G6PD 变体定义了特定的分子异常。 “X失活”假说最初是基于 杂合雌性红细胞的异质性。 G6PD成为重要的 用于研究 X 失活、发病机制、衰老的基因标记和工具 和发展，并取得了多项重要发现 场地。 我们对结构、功能、激素和发育的了解 非人类 G6PD 和 6-磷酸己糖脱氢酶 (H6PD) 的控制 生物体也很先进。 G6PD的分子生物学研究 近年来得到扩展，即正常人G6PD的完整结构 测定并克隆 cDNA。 拟议的研讨会旨在定义 我们目前的知识状况：a) 临床关系 溶血性贫血、红细胞代谢和G6PD的表现 不足; b) G6PD在不同人群中的变异和频率； c) G6PD和G6PD基因座的结构、功能和分子生物学； d) G6PD 变体的结构和功能异常； e) X-失活 以及使用G6PD作为标记物的发病机制研究； f) 结构和 G6PD 在非人类生物体、激素和营养中的功能 G6PD 和 H6PD 的调控和进化。