Genetic and functional analysis of the pathogenesis of ACTH-insensitivity in a patient cohort with late onset disease

迟发性疾病患者队列中 ACTH 不敏感发病机制的遗传和功能分析

• 批准号: G0901980/1
• 负责人: Claire Hughes
• 金额: $ 18.67万
• 依托单位: Queen Mary University of London
• 依托单位国家: 英国
• 项目类别: Fellowship
• 财政年份: 2010
• 资助国家: 英国
• 起止时间: 2010 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=G0901980%2F1
• 关键词: Genetic; functional; analysis; pathogenesis; ACTH

Familial Glucocorticoid Deficiency (FGD) is a rare inherited disorder which leads to adrenal failure and hormone deficiency. Our studies have revealed several genes responsible for this disorder which has led to significant advances in the understanding of normal adrenal function. The abnormal genes responsible for approximately 50% of FGD cases have been discovered.Our proposed research project will attempt to identify new gene(s) involved in this disorder using DNA samples from children and adults with a unique form of late onset FGD.We hope to clarify the function of the FGD gene and the mechanism by which it causes adrenal failure. It is hoped that this research will not only lead to a better understanding of this rare condition but also potentially uncover novel pathways that are essential for normal adrenal function.

家族性糖皮质激素缺乏症（FGD）是一种罕见的遗传性疾病，会导致肾上腺衰竭和激素缺乏。我们的研究揭示了导致这种疾病的几个基因，这使得对正常肾上腺功能的理解取得了重大进展。大约 50% FGD 病例的异常基因已被发现。我们提出的研究项目将尝试使用具有独特形式的迟发性 FGD 的儿童和成人的 DNA 样本来识别与这种疾病有关的新基因。我们希望阐明FGD基因的功能及其引起肾上腺衰竭的机制。希望这项研究不仅能更好地了解这种罕见疾病，而且有可能发现对正常肾上腺功能至关重要的新途径。