Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNALeu(UUR) gene mutation

K. Oexle; J. Oberle; B. Finckh; A. Kohlschütter; M. Nagy; P. Seibel; J. Seissler; C. Hübner

doi:10.1055/s-0029-1211445

Experimental and Clinical Endocrinology & Diabetes, Table of Contents

Exp Clin Endocrinol Diabetes 1996; 104(3): 212-217
DOI: 10.1055/s-0029-1211445

Original

Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNA^Leu(UUR) gene mutation

K. Oexle, J. Oberle, B. Finckh, A. Kohlschütter, M. Nagy, P. Seibel, J. Seissler, C. Hübner

Departments of Pediatrics (K.O., J.O., C.H.) and Forensic Medicine (M.N.), Humboldt-University Medical Center (Charité), Berlin; Department of Pediatrics (B.F., A.K.), University Hospital, Hamburg; Department of Neurology (P.S.), University Hospital, Würzburg; Department of Internal Medicine III (J.S.), University Hospital, Leipzig, Germany

Abstract

PDF Download

Summary

An A3243G point mutation of the mitochondrial tRNA^Leu(UUR) gene was detected in a Caucasian family with maternal diabetes mellitus and signs of mitochondrial dysfunction such as muscular hypotonia, encephalopathy, lactic acidosis, stroke-like episodes (MELAS), neurosensory hearing loss, cardial pre-excitation, and short stature. Low levels (10 JDF) of islet cell antibodies (ICA) in insulin-treated diabetes of the mother and impaired glucose tolerance with high levels of ICA (80 JDF) in her older son indicated that mitochondrial diabetes mellitus may involve beta cell damage. Furthermore, exocrine pancreas cell damage may also occur since the stroke-like episodes of this son were combined with pancreatitis. In all family members HLA types and plasma antioxidants were determined. Normal concentrations of hydro- and lipophilic antioxidants (including ubiquinol-10) were found.

Key words

Diabetes mellitus - islet cell antibodies - mitochondrial encephalomyopathy - MELAS - pancreatitis

PDF (143 kb)