N'Diaye N, Tremblay J, Hamet P, De Herder W W, Lacroix A
Department of Medicine, Research Center, Campus Hôtel-Dieu, Centre Hospitalier de l'Université de Montréal, Quebec, Canada.
J Clin Endocrinol Metab. 1998 Aug;83(8):2781-5. doi: 10.1210/jcem.83.8.5038.
Abnormal responsiveness of adrenocortical cells to gastric inhibitory polypeptide (GIP) in food-dependent Cushing's syndrome suggested that adrenal expression of ectopic, overexpressed, or mutated GIP receptor (GIPR) underlies this syndrome. The expression of GIPR was studied by RT-PCR in human adrenal tissues from two patients with GIP-dependent Cushing's syndrome (adenoma, bilateral hyperplasia), five fetal or adult controls, one patient with Cushing's disease, and four patients with non-food-dependent cortisol-secreting adenomas or bilateral hyperplasias and compared to that in normal pancreas. Hybridization of the RT-PCR-amplified ribonucleic acids with the human GIPR complementary DNA showed an overexpression of GIPR in the adrenals of the two GIP-dependent Cushing's syndrome patients compared to that in normal adrenal tissues (2-3 orders of magnitude) or pancreas (10-fold); no signal could be seen in adrenal adenomas or macronodular hyperplasia from cases of non-food-dependent Cushing's syndrome. No mutation of the GIPR was identified by sequencing the full-length receptor in GIP-dependent adrenal tissue. New alternative spliced isoforms of the GIPR were found, but are identical in GIP-dependent and normal adrenal tissues. Incubation of adrenal cells with GIP stimulates cortisol secretion in GIP-dependent, but not in normal fetal, adult, or non-food-dependent Cushing's syndrome, adrenals. We conclude that the GIPR overexpression and its coupling to steroidogenesis underlie GIP-dependent Cushing's syndrome.
食物依赖性库欣综合征中肾上腺皮质细胞对胃抑制性多肽(GIP)反应异常,提示肾上腺中异位、过表达或突变的GIP受体(GIPR)表达是该综合征的基础。通过逆转录聚合酶链反应(RT-PCR)研究了两名GIP依赖性库欣综合征患者(腺瘤、双侧增生)、五名胎儿或成人对照、一名库欣病患者以及四名非食物依赖性皮质醇分泌腺瘤或双侧增生患者的人肾上腺组织中GIPR的表达,并与正常胰腺中的表达进行比较。RT-PCR扩增的核糖核酸与人GIPR互补DNA杂交显示,与正常肾上腺组织(2-3个数量级)或胰腺(10倍)相比,两名GIP依赖性库欣综合征患者肾上腺中GIPR过表达;在非食物依赖性库欣综合征病例的肾上腺腺瘤或大结节性增生中未检测到信号。通过对GIP依赖性肾上腺组织中的全长受体进行测序,未发现GIPR突变。发现了GIPR的新的可变剪接异构体,但在GIP依赖性和正常肾上腺组织中是相同的。用GIP孵育肾上腺细胞可刺激GIP依赖性库欣综合征肾上腺皮质醇分泌,但对正常胎儿、成人或非食物依赖性库欣综合征肾上腺无此作用。我们得出结论,GIPR过表达及其与类固醇生成的偶联是GIP依赖性库欣综合征的基础。