Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-dependent diabetics.
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.
Oka
Y
Y
Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
Katagiri
H
H
Yazaki
Y
Y
Murase
T
T
Kobayashi
T
T
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
D001323:Autoantibodies; D004272:DNA, Mitochondrial