Genetic defects of beta cell function: (MODY)

Application of Molecular Biology to Clinical Medicine 

Autores: Gómez Pérez Francisco Javier, Mehta Roopa

Fragmento

The importance of genetic factors in b-cell function and insulin secretion is apparent from both epidemiological and family studies. Elucidation of the monogenic causes of MODY (maturity onset diabetes of the young) has been illustrative regarding the types of mutations that may be important for deficient insulin secretion.1 This group of clinically heterogeneous, monogenic disorders may occur in 2 to 5 % of type 2 diabetics. The early age of onset allows the analysis of multigenerational pedigrees making it a convenient model for genetic studies of type 2 diabetes. Genetic causes for the remaining 95% of type 2 diabetics are bound to be polygenic. MODY is characterized by: 1) nonketotic diabetes mellitus. 2) Onset before the age of 25 years, frequently in childhood or adolescence. 3) Autosomal dominant inheritance. 4) non-obese subjects. 5) Defect in glucose-stimulated insulin secretion.

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2003-05-07   |   1,469 visitas   |   Evalua este artículo 0 valoraciones

Vol. 55 Núm.2. Marzo-Abril 2003 Pags. 172-176. Rev Invest Clin 2003; 55(2)