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Åke Lernmark

Principal investigator

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Association between HLA and islet cell antibodies in diabetic patients with a mitochondrial DNA mutation at base pair 3243

Author

  • T. Kobayashi
  • Y. Oka
  • H. Katagiri
  • A. Falornl
  • A. Kasiiga
  • I. Takei
  • K. Nuakanishi
  • T. Murase
  • K. Kosaka
  • A. Lernmark

Summary, in English

Islet cell antibodies (ICA), autoantibodies to glutamic acid decarboxylase (GAD) and HLA genotypes were examined in 31 patients with diabetes and a mitochondria! gene mutation located at base pair 3243 (mtDNA 3243 mutation). ICA was detected in 42 % (13/31) of these patients compared to 0 of 90 among healthy control subjects. The ICA showed a "non-restricted" pattern of staining in all 13 ICA-positive patients. In a sensitive radioligand assay only 2 of 31 (6 %) diabetic patients with the mutation were positive for both GAD65 autoantibodies and ICA, while the remaining 29 patients were GAD65 antibody negative. The ICA-positive patients had an increased frequency of the HLADQA1*0301 allele compared to control subjects (p < 0.05). Of the diabetic patients with the mutation 45% (14/31) had progressive clinical course of betacell failure. These results indicate thai patients with an mtDNA 3243 mutation may develop islet autoimmunity associated with ICA and GAD autoantibodies. We hypothesize that the presence of HLADQA1*0301 in individuals with the mtDNA 3243 mutation increases the risk for diabetes and associated autoantibodies against islet cell antieens.

Publishing year

1996-01-01

Language

English

Pages

1196-1200

Publication/Series

Diabetologia

Volume

39

Issue

10

Document type

Journal article

Publisher

Springer

Topic

  • Endocrinology and Diabetes

Keywords

  • Autoantibodies to glulamic acid decarboxylase (GAD)
  • HLA
  • Insulin-dependent diabetes mellitus
  • Islet cell antibodies
  • Mitochondrial gene mutation

Status

Published

ISBN/ISSN/Other

  • ISSN: 0012-186X