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Clinical and genetic characteristic of selected types of monogenic diabetes mellitus
 Gonsorčíková, Lucie ; Lebl, Jan (advisor) ; Pelikánová, Terezie (referee) ; Kohoutová, Milada (referee)
1. English Summary The aim of this thesis was to find out the etiology of diabetes mellitus in patients with a family predisposition to the disease. The world-wide increase in the incidence of diabetes in the past years has lead to intensive research of its etiological and pathophysiological mechanisms. This research has helped to discover many genes whose mutations were proved to cause diabetes without a contribution of other factors. Such cases where a mutation in a single gene crucial for glucose control is sufficient to result in diabetes are referred to as monogenic diabetes. This group includes a broad spectrum of hyperglycaemic conditions that differ significantly in their prevalence, course, treatment as well as prognosis. The so called MODY (maturity onset diabetes of the young) belongs to this group and is characterized by early onset before 25 years of age and no need of insulin substitution initially. In this study we were looking for mutations in genes that may be a rare cause of monogenic diabetes. We examined patients with hyperglycaemia occurring in several generations of their families and in whom mutations in more prevalent MODY genes had been previously excluded. We performed a genetic analysis of genes NEUROD1, IPF-1 and ABCC8. The protein NEUROD1 is a crucial transcription factor that...
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