Mutações Genéticas Relacionadas com o Diabetes Melito Neonatal
Year: 2009
Type: review
Abstract: The insulin has a central role in the glucose homeostasis regulation. Therefore, the identification of genes associated to the risk of diabetes has contributed to maintaining this equilibrium. Abnormalities on glucose concentrations lead to Diabetes Mellitus (DM) types I, II and neonatal. The neonatal diabetes presents the transitory form (TND) and the permanent form (PND), being the last more frequent. The aim of this research was to present a review of the physiological aspects of diabetes mellitus, mainly focusing the neonatal diabetes as well as the kinds of mutations that lead to PND. It was possible to verify that eight marker genes were already identified for PND predisposition. These mutations lead to specific genetic defects, like: chromosome 6 abnormalities or mutations in the potassium channel, sensible to ATP (K+ATP), or in the KCNJ11 and ABCC8 genes, which codify the first and second subunits of the potassium channel ATP-dependent of the ?-cell, respectively. Alterations in the insulin gene (INS), other logical candidate to the susceptibility to diabetes, located in the short arm of chromosome 11, can also be the cause of neonatal diabetes. The study of these mutations and the knowledge of the physiological and biochemical alterations involved in neonatal diabetes are particularly important for the introduction of new diagnostic and therapeutic methods.
Source: Saúde e Pesquisa
Institution: Centro Universitário Cesumar
Language: Portuguese
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W1570383641