• M Lehto, C Wipemo, S A Ivarsson, C Lindgren, M Lipsanen-Nyman, J Weng, L Wibell, E Widén, T Tuomi, and L Groop.
• Department of Endocrinology, University Hospital MAS, University of Lund, Malmö, Sweden.
• Diabetologia. 1999 Sep 1; 42 (9): 1131-7.

Aims/HypothesisTo investigate the contribution of mutations in maturity-onset diabetes of the young (MODY) and mitochondrial genes to early-onset diabetes with a strong family history of diabetes in a cohort with a high prevalence of Type I (insulin-dependent) diabetes mellitus.MethodsScreening for sequence variants in the hepatocyte nuclear factor (HNF)-4alpha (MODY1), glucokinase (MODY2), HNF-1alpha (MODY3) genes and mitochondrial DNA was carried out in 115 Finnish and Swedish patients with early-onset ( ResultsIn total 52 sequence variants were found in the HNF-1alpha, HNF-4alpha and glucokinase genes, 12 of which were considered as MODY mutations. Three families had the A3243G mutation in the mitochondrial tRNA(Leu) gene, which resulted in an overall prevalence of these mutations of 13 %.Conclusion/InterpretationAmong 115 Scandinavian families, mutations in the HNF-1alpha gene represented the most common cause of familial early-onset (

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