VITAMIN D RESISTANCE AND RELATED DISORDERS

维生素 D 抵抗和相关疾病

• 批准号: 4689964
• 负责人: S J MARX
• 金额: --
• 依托单位: NAT INST OF ARTHRITIS, DIABETES, DIGESTIVE & KIDNEY DISEASES
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/4689964
• 关键词: 1,25 dihydroxycholecalciferol; child (0-11); fibroblasts; human tissue; orphan disease /drug; osteomalacia; renal rickets; rickets; skin; steroid biosynthesis; steroid hormone metabolism; tissue /cell culture; vitamin D deficiency; vitamin biosynthesis; vitamin metabolism

In 1937 Albright and co-workers suggested that rickets or osteomalacia might result from deficient action of vitamin D. With recognition that vitamin D is the precursor to 1,25(OH)2D, a steroidal hormone, it has become possible to identify patients with defective activation of vitamin D and others with defective target action of 1,25(OH)2D. We have shown that patients with hereditary resistance to 1,25(OH)2 exhibit a spectrum of defects in interaction of 1,25(OH)2D with cultured skin fibroblasts. Skin fibroblasts provide a useful model for binding and action of 1,25(OH)2D in its classical target tissues (duodenal mucosa, etc.).

1937年，奥尔布赖特和他的同事提出软骨病或软骨病 可能是由于维生素D的作用不足造成的，认识到 维生素D是1，25(OH)2D的前体，它是一种类固醇激素，它有 有可能识别维生素D激活缺陷的患者 以及具有1，25(OH)2D的缺陷靶向作用的其他。我们已经证明了 对1，25(OH)2具有遗传性抵抗的患者表现出 1，25(OH)2D与皮肤成纤维细胞相互作用的缺陷。皮肤 成纤维细胞为1，25(OH)2D的结合和作用提供了有用的模型 其经典靶组织(十二指肠粘膜等)。