Defects in human insulin receptor gene expression

K. Ojamaa, J. A. Hedo, Charles Roberts, V. Y. Moncada, P. Gorden, A. Ullrich, S. I. Taylor

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

The insulin receptor plays a central role in mediating the biological actions of insulin. We have used Epstein-Barr virus-transformed lymphocytes (EBV-lymphocytes) to investigate the receptor defects in patients with genetic forms of insulin resistance. Within the normal population, we found a close correlation between the number of insulin receptors on the surface of EBV-lymphocytes and the cellular content of insulin receptor mRNA. In addition, we have used the cloned human insulin receptor cDNA to investigate the number of insulin receptors in EBV-lymphocytes from three insulin receptors in EBV-lymphocytes from three insulin resistant patients. One patient with leprechaunism has a marked reduction in the level of receptor mRNA, which probably accounts for the extremely slow rate of receptor biosynthesis measured in this patient's cells. The remaining two patients with type A extreme insulin resistance are sisters, the products of a consanguineous marriage, who have normal levels of insulin receptor mRNA. We have previously shown that the insulin receptor precursor is synthesized at a normal rate in these patients' cells, thus suggesting a defect in the posttranslational processing of the receptor or in its translocation to the plasma membrane.

Original languageEnglish (US)
Pages (from-to)242-247
Number of pages6
JournalMolecular Endocrinology
Volume2
Issue number3
StatePublished - 1988
Externally publishedYes

Fingerprint

Insulin Receptor
Gene Expression
Human Herpesvirus 4
Lymphocytes
Messenger RNA
Insulin Resistance
Donohue Syndrome
Insulin
Defect in Insulin Receptor
human INSR protein
Marriage
Siblings
Complementary DNA
Cell Membrane
Population

ASJC Scopus subject areas

  • Molecular Biology
  • Endocrinology, Diabetes and Metabolism

Cite this

Ojamaa, K., Hedo, J. A., Roberts, C., Moncada, V. Y., Gorden, P., Ullrich, A., & Taylor, S. I. (1988). Defects in human insulin receptor gene expression. Molecular Endocrinology, 2(3), 242-247.

Defects in human insulin receptor gene expression. / Ojamaa, K.; Hedo, J. A.; Roberts, Charles; Moncada, V. Y.; Gorden, P.; Ullrich, A.; Taylor, S. I.

In: Molecular Endocrinology, Vol. 2, No. 3, 1988, p. 242-247.

Research output: Contribution to journalArticle

Ojamaa, K, Hedo, JA, Roberts, C, Moncada, VY, Gorden, P, Ullrich, A & Taylor, SI 1988, 'Defects in human insulin receptor gene expression', Molecular Endocrinology, vol. 2, no. 3, pp. 242-247.
Ojamaa K, Hedo JA, Roberts C, Moncada VY, Gorden P, Ullrich A et al. Defects in human insulin receptor gene expression. Molecular Endocrinology. 1988;2(3):242-247.
Ojamaa, K. ; Hedo, J. A. ; Roberts, Charles ; Moncada, V. Y. ; Gorden, P. ; Ullrich, A. ; Taylor, S. I. / Defects in human insulin receptor gene expression. In: Molecular Endocrinology. 1988 ; Vol. 2, No. 3. pp. 242-247.
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