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Exp Clin Endocrinol Diabetes 1998; 106(5): 384-388
DOI: 10.1055/s-0029-1212003
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© J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York

Maternally-inherited diabetes and deafness: Report of two affected German families with the A3243G mitochondrial DNA mutation

C. Thorns, A. Widjaja* , N. Boeck, C. Skamira* , H. Zühlke
  • Hannover Medical School, Dept. of Biochemistry, Hannover, Germany
  • *Hannover Medical School, Dept. of Clinical Endocrinology, Hannover, Germany
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Publication Date:
14 July 2009 (online)

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Summary

In two German families four patients containing the A3243G mutant in the mitochondrial DNA suffered from maternally-inherited diabetes and deafness (MIDD). DNA was isolated from oral mucosa cells. Using the polymerase chain reaction with not yet published primers, we obtained after digestion with the restriction endonuclease BSP 120I two oligonucleotides of comparable size increasing the sensitivity of our method two times. Under these conditions we were able to detect 0.8% of the mutated] DNA.

In general, the patients show the characteristics proposed for MIDD I by Maassen et al. (1997), however, there are some differences: age at 1 onset (in our study 36‐45 y), body mass index (>26 kg/m2). In ad-1 dition, our study shows that MIDD may be combined with neuronal I disorders (M. Parkinson, epilepsy) and/or endocrinopathies (M. Ad-dison). Our data indicate that MIDD is a heterogeneous disease. On the other hand, in one family there are healthy probands with a high ] concentration of mutated mitochondrial DNA.

Key words

MIDD - family studies - mitochondrial DNA mutation