Clark Adrian J L, Metherell Louise A, Cheetham Michael E, Huebner Angela
Department of Endocrinology, Barts and the London, Queen Mary, University of London, West Smithfield, London EC1M 6BQ, UK.
Trends Endocrinol Metab. 2005 Dec;16(10):451-7. doi: 10.1016/j.tem.2005.10.006. Epub 2005 Nov 3.
Adrenocorticotrophin (ACTH) insensitivity is a potentially lethal inherited disorder of ACTH signalling in the adrenal. Inactivating mutations of the ACTH receptor account for approximately 25% of these cases. A second genetic cause for this syndrome has recently been identified in the MRAP gene. The MRAP protein appears to function in the trafficking and cell surface expression of the ACTH receptor, and might indicate the existence of more widespread G-protein-coupled receptor trafficking mechanisms. Molecular defects underlying other causes of ACTH insensitivity syndromes will probably contribute further to our understanding of these pathways.
促肾上腺皮质激素（ACTH）不敏感是一种潜在致命的肾上腺ACTH信号传导遗传性疾病。ACTH受体的失活突变约占这些病例的25%。最近在MRAP基因中发现了该综合征的第二个遗传病因。MRAP蛋白似乎在ACTH受体的转运和细胞表面表达中发挥作用，可能预示着存在更广泛的G蛋白偶联受体转运机制。ACTH不敏感综合征其他病因的分子缺陷可能会进一步增进我们对这些途径的理解。
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