Estudio genético de diabetes en la población de Castilla y León
[EN]In recent years, the prevalence of diabetes has increased exponentially in all countries due largely to changes in eating habits, obesity and lifestyle. It is estimated that in 2025 the number of diabetics will double, which is a serious global health problem. Diabetes is a chronic syndrome whose main characteristic is the increased concentration of blood glucose or hyperglycemia, due to a lack of insulin or the insulin can not properly undertake this action. There are two main types of diabetes. Type 1 diabetes usually appears in childhood, adolescence and youth is due to an autoimmune phenomenon in which insulin-producing cells in the pancreas are destroyed by the body itself. Type 2 diabetes results from insulin resistance normally associated with a β cell defect that usually occurs at older ages, although increasingly featured in earlier stages. Often accompanied by obesity. MODY diabetes is a type of diabetes whose main characteristics are an early age of onset before age 25, an autosomal dominant, with a strong family history and absence of obesity. There are six types of MODY diabetes, depending on the mutated gene. The most common order of frequency are MODY2, MODY 3 and MODY 1, where genes are mutated glucokinase, HNF1α and HNF4α, respectively, all related to the β-cell function. The frequency of other MODY types of diabetes is very low. With our work we studied allelic variants in genes involved in the development of diabetes and its complications, and compared with a control group so we could identify variants associated with disease. On the other hand, we have studied the three most important genes involved in the development of diabetes in MODY patients and families who meet diagnostic criteria for this type of diabetes, for the presence of new mutations not described.
Tesis y disertaciones académicas, Universidad de Salamanca (España), Academic dissertations, Diabetes, Castilla y León (España), Castilla y León (Spain), Genes, Población, Population
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