J.Jpn. Surg. Soc.
ISSN 1880-1129

[Abstract] [Full Text PDF] （in Japanese / 1929KB） [Members Only And Two Factor Auth.]

J.Jpn. Surg. Soc.. 93(9): 968-971, 1992

Report on the annual meeting

INSULIN RECEPTOR Arg1131→Gln: A NOVEL MUTATION IN THE CATALYTIC LOOP OF INSULIN RECEPTOR OBSERVED IN INSULIN RESISTANT DIABETES

1) Second Department of lnternal Medicine, Kobe University School of Medicine, Kobe, Japan
2) Hyogo Medical Center For Adults, Akashi, Japan
3) Hyogo Institute of Clinical Researc, Akashi, Japan

Masato Kasuga1), Miyako Kishimoto1), Mitsuru Hashiramoto1), Kazuyoshi Yonezawa1), Tsutomu Kazumi2), Haruhiko Hagino3), Kozui Shii3)

A novel mutation Arg1131→Gln in the catalytic loop of insulin receptor (IR) associated with insulin resistant diabetes was detected. A 56-year-old male with hyperinsulinemia (fasting IRI 92μU/ml) showed moderate impairment in glucose tolerance (HbAlc 7.0％, fructosamin 258μmole/1, fasting glucose 119mg/dl, maximum value of blood glucose during 75g OGTT 220 mg/dl). While insulin binding to erythrocytes IR was normal, the insulininduced autophosphorylation of the patient’s erythrocytes IR in vivo showed marked decrease, suggesting this patient had some defect in the kinase domain (exon 17-21) of IR. PCR-SSCP analysis of kinase domain with a genomic DNA obtained from the patient’s leucocytes indicated the presence of some mutations in exon 19. Sequencing analysis in M13 revealed a heterozygous mutation at a position 1131 (CGG→CAG) substituting Gln for Arg. Four people of patient’s family analyzed are revealed to have an identical missense mutation at the same position with the patient.

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