Genetics of the insulin receptor defect in a patient with extreme insulin resistance

J Clin Endocrinol Metab. 1986 Jun;62(6):1130-5. doi: 10.1210/jcem-62-6-1130.

Abstract

A patient with extreme insulin resistance (leprechaun/Ark-1) had an 80-90% decrease in the number of insulin receptors on her circulating monocytes. In contrast, while a normal number of insulin receptors was expressed on the surface of Epstein-Barr (EB) virus-transformed lymphocytes from the patient, the receptors had decreased sensitivity to changes in temperature and pH. The father, who had a moderate degree of insulin resistance, resembled the patient in that his monocytes had a 60-80% decrease in the number of insulin receptors. Binding to the father's EB virus-transformed lymphocytes was normal. The mother was normally sensitive to insulin and had a normal number of insulin receptors on her circulating monocytes. In contrast, insulin receptors on the mother's EB virus-transformed lymphocytes were qualitatively abnormal, closely resembling the daughter's cultured cells. These observations suggest that each parent has transmitted a different genetic defect to the patient. When both mutations coexist in the same individual, they fail to complement, but, rather, result in extreme insulin resistance.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Transformation, Viral
  • Diabetes Mellitus, Type 2 / genetics
  • Endocrine System Diseases / genetics
  • Endocrine System Diseases / metabolism
  • Face / abnormalities
  • Female
  • Herpesvirus 4, Human
  • Humans
  • Hydrogen-Ion Concentration
  • In Vitro Techniques
  • Insulin / blood
  • Insulin Resistance*
  • Lymphocytes / metabolism
  • Male
  • Monocytes / metabolism
  • Receptor, Insulin / genetics*
  • Receptor, Insulin / metabolism
  • Syndrome

Substances

  • Insulin
  • Receptor, Insulin