Journal of Clinical Endocrinology & Metabolism, Vol 62, 1130-1135, Copyright © 1986 by Endocrine Society

ARTICLES

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

SI Taylor, B Marcus-Samuels, J Ryan-Young, S Leventhal and MJ Elders

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.

This article has been cited by other articles:

				T Kadowaki, C. Bevins, A Cama, K Ojamaa, B Marcus-Samuels, H Kadowaki, L Beitz, C McKeon, and S. Taylor Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance Science, May 6, 1988; 240(4853): 787 - 790. [Abstract] [PDF]