Genetically defined pancreatic beta cell failure.
The major subtypes of diabetes mellitus (DM) are complex diseases in which the interactions between genetic susceptibility and metabolic, immunologic and environmental factors ultimately lead to the clinical phenotype. The unraveling of these factors and the study of their contribution to the pathogenesis of DM is a process of unimaginable complexity. As a result, despite the individual differences in DM phenotype, most patients with DM receive treatment according to generalized treatment protocols, only discriminating between Type 1 and Type 2 DM and not related to the individual genetic background of the patients. Nevertheless, in recent years, much progress has been made in the search for genetic factors in DM. As an example, the recognition of monogenetic defects in beta cell function has lead to the definition of novel DM subtypes, which have important implications for the individual therapeutic approach for these patients and the understanding of the etiology of DM.
Smit
Jan W A
JW
Department of Endocrinology & Metabolism, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands. j.w.a.smit.endo@lumc.nl
Diamant
Michaela
M
D000818:Animals; D003920:Diabetes Mellitus / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007515:Islets of Langerhans / Q000473:pathology* / Q000502:physiology