Il "Maturity Onset Diabetes of the Young" (MODY)

The Maturity Onset Diabetes of the Young (MODY). The Maturity Onset Diabetes of the Young (MODY) is a monogenic, autosomal dominant form of diabetes mellitus which is readily distinguishable, on a clinical ground, from the common, polygenic forms currently designated as type 1 (T1D) and type 2 (T2D) diabetes. MODY can be caused by mutations in 6 different genes, but a percentage varying from 15 up to 45% of patients clinically defined as MODY do not bear a mutation in any of the known MODY genes. In most MODY patients a mutation in the enzyme glucokinase (GCK/MODY2) or in the transcription factor hepatocyte nuclear factor-1α (HNF-1α/MODY3) is detected, the relative frequency depending on the population studied and on the clinical setting (pediatric versus adult diabetes clinic) where the index case is referred. Several studies have demonstrated that the clinical features and the metabolic profile of patients bearing a MODY 2 mutation allow the clinician to diffentiate them from patients with a defect of the TCF1 (MODY3) gene. Moreover, MODY3 has been one of the first examples of pharmacogenomics in the area of diabetes.Recently, it has been also demonstrated that homozygous or compound heterozygous mutations of the GCK lead to a very rare form of monogenic diabetes called Permanent Neonatal Diabetes Mellitus. MODY is a useful model of diabetes caused by an array of defects of the pancreatic beta cell.