Familial IgA Nephropathy: Genetic and Metabolic Studies

家族性 IgA 肾病：遗传和代谢研究

• 批准号: 6845694
• 负责人: JIRI F MESTECKY
• 金额: $ 134.79万
• 依托单位: UNIVERSITY OF ALABAMA AT BIRMINGHAM
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-06-15 至 2007-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6845694
• 关键词: IgA nephropathy; clinical research; family genetics; glomerulonephritis; patient oriented research

IgA nephropathy (IgAN) is the most common primary glomerulonephritis in the world. Because of its frequently unfavorable cou7rse and lack of specific therapy, IgAN represents a serious healthy care and economic problem. The overall objective of the proposed Program Project is to determine the genetic and molecular basis of this common disease through integrated studies of patients with IgAN or Henoch-Schonlein purpura (HSP), commonly considered the systemic form of the disease process causing IgAN. We will enroll 20 multiplex families with 50 member5s afflicted with IgAN or HSP and 150 other family members; 150 Caucasian patients with sporadic IgAN (no affected relatives) and 375 of their family members, 50 patients with HSP and 125 of their relatives, 50 African-American patients with IgAN and 200 family members, 50 patients with non-IgAN glomerulonephritis, and 200 Caucasians and 100 African-Americans as health controls. This proposal is based on novel findings generated in the laboratories of the participating investigators, with respect to genetic, biosynthetic, and metabolic studies of IgA molecules, immune complexes, and relevant receptors involved in IgA catabolism. The Program Project consists of three component research project and two core facilities: Project 1: Genetic Studies of IgA Nephropathy Project 2: Biosynthesis and Glycosylation of IgA1 Molecules in IgA Nephropathy Project 3: Immune Complexes and Mesangial Cells in IgA Nephropathy Core A: Clinical Resources and Biostatistics Core B: Administrative The results generated through extensive collaboration among the participating investigators are likely to provide information concerning the genetic and molecular defects characteristic of IgAN, identify mechanisms of the pathogenesis of this disease, and ultimately provide a basis to develop rational therapeutic approaches.

IGA肾病（IGAN）是世界上最常见的原发性肾小球肾炎。由于其经常不利的COU7RSE和缺乏特定的疗法，IGAN代表了严重的健康护理和经济问题。提出的计划项目的总体目标是通过对Igan或Henoch-Schonlein紫癜（HSP）患者的综合研究来确定这种常见疾病的遗传和分子基础，该研究通常被认为是疾病过程的全身形式，导致IGAN。 我们将招募20个多元家庭，其中有50个成员5，患有IGAN或HSP和其他150个家庭成员； 150例偶发性IGAN（无影响的亲戚）和375名家庭成员，50名HSP患者和125名亲戚，50名非裔美国人患有IGAN和200名家庭成员的患者，50名非基因肾小球肾炎患者以及200名非肾上腺肾小球肾炎的患者以及200名非肾小球肾上腺炎患者以及200名非洲裔人和200名非洲裔美国人的健康对照者。该建议基于参与研究者实验室中产生的新发现，这些发现在IGA分子，免疫复合物以及与IgA分解代谢有关的IgA分子，免疫复合物以及相关受体的遗传，生物合成和代谢研究方面产生的新发现。该计划项目由三个组件研究项目和两个核心设施组成：项目1：IgA肾病的遗传研究2：IgA肾病中IgA1分子的生物合成和IgA1分子的生物合成和糖基化。参与的研究人员可能会提供有关IGAN的遗传和分子缺陷特征，确定该疾病发病机理的机制的信息，并最终提供了开发理性治疗方法的基础。