[Maturity-onset diabetes of the young--MODY. Molecular-genetic, pathophysiological and clinical characteristics].

Abstract

Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of type 2 diabetes characterised by an early onset, an autosomal dominant inheritance, and a primary defect in insulin secretion. MODY comprises 2-5% of cases of type 2 diabetes. So far, six MODY genes have been identified (MODY1-6): hepatocyte nuclear factor (HNF-4 alpha), glucokinase, HNF-1 alpha, HNF-1 beta, insulin promoter factor 1(IPF-1), and neurogenic differentiation factor 1 (NEUROD1). MODY2 and MODY3 are the most common forms of MODY. Mutations in glucokinase/MODY2 result in a mild form of diabetes. In contrast, MODY3 and some of the other MODY forms are characterised by major insulin secretory defects and severe hyperglycaemia associated with microvascular complications. About 25% of known MODY is caused by mutations in yet unknown genes and present results suggest that other monogenic forms of type 2 diabetes might exist. The diagnosis of MODY has implications for the clinical management of the patient's diabetes. The identification of MODY genes also opens new perspectives in the understanding of the molecular basis of diabetes and may probably contribute to the definition of novel targets for drug development and gene therapy.

• Authors: Torben Hansen, Søren A Urhammer, Oluf Borbye Pedersen
• Journal: Ugeskrift for laeger (Ugeskr Laeger) Vol. 164 Issue 15 Pg. 2017-22 (Apr 08 2002) ISSN: 0041-5782 [Print] Denmark
• Vernacular Title: Maturity-onset diabetes of the young--MODY. Molekylaergenetiske, patofysiologiske og kliniske karakteristika.
• PMID: 11984998 (Publication Type: Journal Article, Review)

Chemical References

• Insulin
• Nuclear Proteins
• Receptors, Cytoplasmic and Nuclear
• Transcription Factors
• Glucokinase

Topics

• Diabetes Mellitus, Type 2 (diagnosis, genetics, metabolism, physiopathology)
• Glucokinase (genetics, metabolism)
• Humans
• Insulin (genetics, metabolism)
• Insulin Secretion
• Mutation
• Nuclear Proteins (genetics, metabolism)
• Receptors, Cytoplasmic and Nuclear (genetics)
• Transcription Factors (genetics, metabolism)