HYPO- AND HYPERADRENAL STATES - SALT DEPRIVATION STUDY

肾上腺低下和肾上腺亢进状态 - 盐剥夺研究

• 批准号: 7718127
• 负责人: MARIA I. NEW
• 金额: $ 1.03万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-03-01 至 2009-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7718127
• 关键词: Accounting; Adrenal Cortex; Affect; Biochemical; Clinical; Computer Retrieval of Information on Scientific Projects Database; Congenital adrenal hyperplasia; Defect; Disease; Enzymes; Family member; Funding; Gene Mutation; Genes; Genotype; Grant; Hormonal; Inherited; Institution; Investigation; Molecular Genetics; Numbers; Pathway interactions; Patients; Phenotype; Protocols documentation; Research; Research Personnel; Resources; Sodium Chloride; Source; Steroid 21-Monooxygenase; Steroid biosynthesis; Steroids; United States National Institutes of Health; base; deprivation; wasting

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. A large number of inherited and acquired disorders can affect the function of the adrenal cortex, causing either reduced (hypo) or increased (hyper) adrenocortical function. Our team has focused on elucidating the biochemical defects and the molecular genetic basis of disorders of steroidogenesis, primarily in Congenital Adrenal Hyperplasia. Over the past 50 years, we have studied extensively the clinical, hormonal and molecular genetic basis of these disorders, identifying the defect within the steroid synthesis pathway which causes the disease and establishing a treatment which specifically targets the enzyme defect. This can be straightforward in cases where the genetic mutations causing a disease have been characterized (eg 21-hydroxylase deficiency, accounting for 90-95% of all CAH cases) and the mechanism of disease is known; however, this can be particularly difficult in cases where the determinant gene has not yet been identified and the mechanism of disease remains unknown. Therefore the following protocol outlines the means by which we are able to characterize the diverse clinical spectra of patients with rare steroidogenesic enzyme defects and their family members. Hypothesis related to CAH: 1. Genotype predicts phenotype in patients with salt wasting, simple virilizing, and the non-classical forms of congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency. 2. There are examples of non-concordance of genotype to phenotype, particularly with regard to the salient feature of salt-wasting, which merit investigation.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 大量遗传和获得的疾病会影响肾上腺皮质的功能，从而导致降低（降低）或增加（超）肾上腺皮质功能。 我们的团队专注于阐明类固醇生成疾病的生化缺陷和分子遗传基础，主要是在先天性肾上腺增生中。 在过去的50年中，我们对这些疾病的临床，激素和分子遗传基础进行了广泛的研究，从而确定了类固醇合成途径内的缺陷，该缺陷导致疾病并建立了一种专门针对酶缺陷的治疗方法。 如果已经表征了引起疾病的遗传突变（例如21-羟化酶缺乏症，占所有CAH病例的90-95％）并且已知疾病机理的情况，这可能是直接的；但是，在尚未鉴定出决定性基因并且疾病机制尚不清楚的情况下，这可能特别困难。 因此，以下方案概述了我们能够表征稀有类固醇酶缺损及其家人的患者的多种临床光谱的手段。 与CAH有关的假设： 1。基因型可以预测盐浪费，简单病毒的患者以及由于21-羟化酶缺乏症而导致的先天性肾上腺增生（CAH）的非经典形式。 2。有一些基因型与表型不相关的例子，尤其是在浪费盐的显着特征方面，这是值得研究的。