Diabetologia

, Volume 36, Issue 2, pp 172–174

Patients with lipodystrophic diabetes mellitus of the Seip-Berardinelli type, express normal insulin receptors

  • E. R. van der Vorm
  • A. Kuipers
  • J. W. Bonenkamp
  • W. J. Kleijer
  • L. Van Maldergem
  • J. Herwig
  • J. A. Maassen
Article

DOI: 10.1007/BF00400701

Cite this article as:
van der Vorm, E.R., Kuipers, A., Bonenkamp, J.W. et al. Diabetologia (1993) 36: 172. doi:10.1007/BF00400701

Summary

Lipodystrophic diabetes mellitus of the Seip-Berardinelli type is a syndrome associated with insulin resistance and recessive inheritance. We have examined whether mutations in the insulin receptor are pathogenetic factors in this syndrome. Fibroblasts from three different patients with Seip-Berardinelli's lipodystrophy were tested for insulin binding, and insulin-stimulated receptor autophosphorylation. In addition, the coding region of both alleles of the insulin receptor gene was sequenced. No abnormalities in the number of high affinity insulin binding sites, and in-sulinstimulated receptor autophosphorylation were detected. The insulin receptor related insulin-like growth factor I receptor also showed no functional changes. DNA sequence analysis of the amplified exons of the insulin receptor gene showed a silent mutation in patient 1 at codon Ser339, changing AGT to AGC. In patient 2 a heterozygous Met for Val substitution at position 985 was detected, which is a rare polymorphism. In patient 3 no mutations, other than described polymorphisms, were observed. These findings demonstrate that the primary genetic lesion in Seip-Berardinelli's lipodystrophy is outside the insulin receptor gene and that an involvement of the insulin-like growth factor I receptor is also unlikely.

Key words

Lipodystrophic diabetes mellitus insulin resistance insulin receptor IGF-I receptor polymorphisms Seip-Berardinelli syndrome 

Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • E. R. van der Vorm
    • 1
  • A. Kuipers
    • 1
  • J. W. Bonenkamp
    • 2
  • W. J. Kleijer
    • 3
  • L. Van Maldergem
    • 4
  • J. Herwig
    • 5
  • J. A. Maassen
    • 1
  1. 1.Department of Medical Biochemistry, Sylvius LaboratoriesState UniversityLeidenThe Netherlands
  2. 2.Sophia Children's HospitalRotterdamThe Netherlands
  3. 3.Department of Clinical GeneticsErasmus UniversityRotterdamThe Netherlands
  4. 4.Institut de Morphologie PathologiqueLovervalBelgium
  5. 5.Klinikum der JW Goethe UniversitätFrankfurt am MainFRG

Personalised recommendations