Moxley R T, Livingston J N, Lockwood D H, Griggs R C, Hill R L
Proc Natl Acad Sci U S A. 1981 Apr;78(4):2567-71. doi: 10.1073/pnas.78.4.2567.
Insulin insensitivity of uncertain etiology often exists in myotonic muscular dystrophy, a multitissue, autosomal dominant disorder hypothesized to be a hereditary membrane disease. The present studies show that monocytes from patients with myotonic dystrophy fail to demonstrate the normally observed qualitative increase in insulin-binding affinity after oral glucose loading. Monocytes from 10 normal volunteers developed a significantly increased insulin-binding affinity by 2 hr after glucose ingestion (mean +/- SEM, 11.7 +/- 2.7 ng/ml compared to basal 50% insulin displacement value of 23.3 +/- 2.2 ng/ml, P less than 0.005). This increase was maintained at 5 hr (13.5 +/- 2.7 ng/ml, P less than 0.05). In contrast, no significant increase in monocyte insulin-binding affinity occurred in cells from nine myotonic dystrophy patients at 2 and 5 hr after glucose loading (50% insulin displacement values: basal, 14.2 +/- 2.8 ng/ml; 2 hr, 16.7 +/- 1.7 ng/ml; 5 hr, 10.8 +/- 2.1 ng/ml). These alterations document the presence of abnormalities in the insulin receptor or receptor-associated processes that modulate insulin binding. A hereditary plasma membrane defect may underlie these findings. This abnormality may have an etiologic role in the decreased insulin sensitivity that frequently afflicts patients with myotonic dystrophy.
胰岛素敏感性异常的病因不明,常存在于强直性肌营养不良症中,这是一种多组织受累的常染色体显性疾病,被认为是一种遗传性膜疾病。目前的研究表明,强直性肌营养不良症患者的单核细胞在口服葡萄糖负荷后,未能表现出正常观察到的胰岛素结合亲和力的定性增加。10名正常志愿者的单核细胞在摄入葡萄糖后2小时,胰岛素结合亲和力显著增加(平均值±标准误,11.7±2.7 ng/ml,而基础50%胰岛素置换值为23.3±2.2 ng/ml,P<0.005)。这种增加在5小时时仍保持(13.5±2.7 ng/ml,P<0.05)。相比之下,9名强直性肌营养不良症患者的细胞在葡萄糖负荷后2小时和5小时,单核细胞胰岛素结合亲和力没有显著增加(50%胰岛素置换值:基础值,14.2±2.8 ng/ml;2小时,16.7±1.7 ng/ml;5小时,10.8±2.1 ng/ml)。这些改变证明了胰岛素受体或调节胰岛素结合的受体相关过程存在异常。遗传性质膜缺陷可能是这些发现的基础。这种异常可能在经常困扰强直性肌营养不良症患者的胰岛素敏感性降低中起病因学作用。