Human Diabetes Associated with a Deletion of the Tyrosine Kinase Domain of the Insulin Receptor
1989; American Association for the Advancement of Science; Volume: 245; Issue: 4913 Linguagem: Inglês
10.1126/science.2544997
ISSN1095-9203
AutoresMasato Taira, Masanori Taira, Naotake Hashimoto, F Shimada, Yoshifumi Suzuki, Azuma Kanatsuka, Fumiko Nakamura, Yousuke Ebina, Masamiti Tatibana, Hideichi Makino, Sho Yoshida,
Tópico(s)Protein Tyrosine Phosphatases
ResumoThe insulin receptor has an intrinsic tyrosine kinase activity that is essential for signal transduction. A mutant insulin receptor gene lacking almost the entire kinase domain has been identified in an individual with type A insulin resistance and acanthosis nigricans. Insulin binding to the erythrocytes or cultured fibroblasts from this individual was normal. However receptor autophosphorylation and tyrosine kinase activity toward an exogenous substrate were reduced in partially purified insulin receptors from the proband's lymphocytes that had been transformed by Epstein-Barr virus. The insulin resistance associated with this mutated gene was inherited by the proband from her mother as an apparently autosomal dominant trait. Thus a deletion in one allele of the insulin receptor gene may be at least partly responsible for some instances of insulin-resistant diabetes.
Referência(s)