Schilling E E, Rechler M M, Grunfeld C, Rosenberg A M
Proc Natl Acad Sci U S A. 1979 Nov;76(11):5877-81. doi: 10.1073/pnas.76.11.5877.
Insulin binding to insulin receptors, on skin fibroblasts established in culture from an infant with insulin resistance and clinical features of leprechaunism was markedly decreased in comparison with cultures from an age-matched control. By contrast, the binding of epidermal growth factor, a polypeptide growth factor chemically unrelated to insulin, to patient's and control fibroblasts was indistinguishable. The selective defect in insulin binding to patient's fibroblasts was reflected in an impaired ability of insulin to stimulate 2-deoxyglucose uptake. These results most likely indicate a primary genetic defect of insulin receptors.
从一名患有胰岛素抵抗和妖精貌综合征临床特征的婴儿培养建立的皮肤成纤维细胞中，胰岛素与胰岛素受体的结合与年龄匹配的对照培养物相比明显减少。相比之下，表皮生长因子（一种化学结构与胰岛素无关的多肽生长因子）与患者及对照成纤维细胞的结合没有差异。胰岛素与患者成纤维细胞结合的选择性缺陷反映在胰岛素刺激2-脱氧葡萄糖摄取的能力受损。这些结果很可能表明胰岛素受体存在原发性基因缺陷。
