title: Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-dependent diabetics.
abstract: Autoimmunity is thought to lead to islet-cell-antibody (ICA) formation in diabetes mellitus. However, we found a mitochondrial gene mutation at nucleotide pair 3243 in 3 of 27 Japanese ICA-positive, initially non-insulin-dependent diabetic patients. All 3 progressed to insulin-dependency within 13-31 months, whereas 5 of the other 24 are non-insulin-dependent after 54-90 months. ICA, at least in these 3 patients, may follow gradual beta-cell destruction due to mitochondrial gene mutation, although the possibility of beta-cells with the mutation being susceptible to autoimmune destruction cannot be excluded.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Oka
authors.forename: H
authors.initials: H
authors.lastname: Katagiri
authors.forename: Y
authors.initials: Y
authors.lastname: Yazaki
authors.forename: T
authors.initials: T
authors.lastname: Murase
authors.forename: T
authors.initials: T
authors.lastname: Kobayashi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001323:Autoantibodies / Q000096:biosynthesis*; D004272:DNA, Mitochondrial / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics* / Q000276:immunology; D005260:Female; D006801:Humans; D007515:Islets of Langerhans / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011446:Prospective Studies
chemical_list: D001323:Autoantibodies; D004272:DNA, Mitochondrial