Primary defect of insulin receptors in skin fibroblasts cultured from an infant with leprechaunism and insulin resistance.

• DOI: 10.1073/pnas.76.11.5877
• Publication Date: 2006-05-31T07:52:03Z
• Authors: E E Schilling; M M Rechler; C Grunfeld; A M Rosenberg
• Keywords: Insulin receptor substrate

Insulin binding to insulin receptors, on skin fibroblasts established in culture from an infant with resistance and clinical features of leprechaunism was markedly decreased comparison cultures age-matched control. By contrast, the epidermal growth factor, a polypeptide factor chemically unrelated insulin, patient's control indistinguishable. The selective defect reflected impaired ability stimulate 2-deoxyglucose uptake. These results most likely indicate primary genetic receptors.