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Exp Clin Endocrinol Diabetes 1996; 104(3): 212-217
DOI: 10.1055/s-0029-1211445
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© J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York

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
  • 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
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Publication History

Publication Date:
15 July 2009 (online)

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Summary

An A3243G point mutation of the mitochondrial tRNALeu(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

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