[Molecular diagnosis of diabetes mellitus].

Diabetes mellitus comprises a heterogeneous group of disorders characterized by chronic hyperglycemia. Type 1 and type 2 diabetes result from alterations of various genes, each having partial and additive effects. Thus, the inheritance pattern is rather complex, and environmental factors play an important role in the manifestation and clinical course of the disease. There is no genetic test to diagnose diabetes mellitus type 1 or type 2. However, certain susceptibility genes and genetic variations can be examined for specific scientific questions. Furthermore, defined genetic defects exist of pancreatic beta-cell function (maturity-onset diabetes of the young, mitochondrial diabetes) and insulin action (e.g. insulin resistance syndromes and lipodystrophy syndromes) resembling monogenic disorders. In these cases, genetic tests are crucial for the correct classification of the type of diabetes, genetic counseling, and initiation of the appropriate therapy regimen.