The genetics of ACTH resistance syndromes
The genetics of ACTH resistance syndromes
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DOI：
10.1016/j.beem.2006.09.002
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发表时间：
2006-12-01
影响因子：
7.4
通讯作者：
Clark, Adrian J. L.
中科院分区：
文献类型：
--
作者：
Metherell, Louise A.;Chan, Li F.;Clark, Adrian J. L.
遗传性促肾上腺皮质激素（ACTH）抵抗性疾病是罕见的，包括三A综合征和家族性糖皮质激素缺乏症（FGD）。这些条件显示遗传异质性，即，相同的临床表型可由一个以上基因的缺陷引起。临床上，FGD的特征仅在于ACTH抵抗，而三A综合征表现出各种其他临床特征。FGD是由ACTH受体（黑皮质素2受体，MC2R）和最近鉴定的黑皮质素2受体辅助蛋白（MRAP）基因突变引起的。此外，已证明与8号染色体上的基因座连锁。在ACTH抵抗综合征中进一步鉴定基因可能揭示MC2R信号传导和运输的新方面。本文将总结这些罕见但信息丰富的疾病的临床，生化和遗传方面。
Inherited adrenocorticotropin (ACTH) resistance diseases are rare and include triple A syndrome and familial glucocorticoid deficiency (FGD). These conditions show genetic heterogeneity, i.e., the identical clinical phenotype may result from defects in more than one gene. Clinically, FGD is characterized only by ACTH resistance, while the triple A syndrome exhibits a variety of additional clinical features. FGD is caused by mutations in the ACTH receptor (melanocortin 2 receptor, MC2R) and the recently identified melanocortin 2 receptor accessory protein (MRAP) genes. In addition, linkage to a locus on chromosome 8 has been demonstrated. The identification of further genes in ACTH resistance syndromes may reveal novel aspects of MC2R signalling and trafficking. This review will summarize the clinical, biochemical and genetic aspects of these rare but informative diseases.