PATHOGENESIS AND PATHOPHYSIOLOGY OF FAMILIAL NEUROHYPOPHYSEAL DIABETES

家族性神经垂体糖尿病的发病机制和病理生理学

• 批准号: 6245171
• 负责人: GARY L. ROBERTSON
• 金额: $ 1.2万
• 依托单位: NORTHWESTERN UNIVERSITY AT CHICAGO
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-07-15 至 1997-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6245171
• 关键词: clinical research; cytotoxicity; disease /disorder etiology; family genetics; gene mutation; human subject; molecular pathology; nephrogenic diabetes insipidus; neurons; pathologic process

This project is part of an ongoing study to define the pathogenesis and pathophysiology of the autosomal dominant form of familial neurohypophyseal diabetes insipidus (FNDI). In the last 4 years, we and others have determined that FNDI is linked to diverse mutations in the coding region of the gene for the polypeptide precursor (AVP-NPII). We postulate that FNDI is due to selective destruction of AVP-producing neurohypophyseal neurons by a mutant precursor that gradually accumulates and disrupts the cells because it cannot be processed properly.

该项目是一项正在进行的研究的一部分，以确定发病机制和