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Properties of Glucocorticoid Receptors in Epstein-Barr Virus-transformed Lymphocytes from Patients with Familial Cortisol Resistance¹

Second Department of Internal Medicine, Osaka University Medical School, Fukushima, 1-1-50 Fukushima, Osaka 553, Japan

In a previous report of two patients with familial glucocorticoid resistance due to reduced numbers of glucocorticoid receptors (GR), we have shown decreased numbers of GR in peripheral mononuclear cells and cultured fibroblasts but normal affinity of GR in both patients. In this study, peripheral lymphocytes from these patients, one patient's son and daughter, and normal subjects were transformed with Epstein-Barr virus. Reduced numbers and normal affinity of GR were found in the Epstein-Barr virus-transformed lymphocytes from both patients while the son and daughter had normal numbers and affinity of GR. The thermal stability of GR and thermal activation of cytosolic receptors in both patients were found to be normal. Although the percentages of nuclear bound GR were similar in both patients and normal controls, the absolute amounts of nuclear bound GR of the patients were about one-half that of normal controls. These abnormal properties of GR (reduced numbers of GR) were preserved in the transformed cells from the patients.