Unraveling the mystery of homocysteine : a genomic approach

摘要: The aims of the present thesis were to explore molecular genetics and pathophysiology hyperhomocysteinemia. These objectives will be addressed by following two research questions: i) Which genetic variants contribute hyperhomocysteinemia, ii) What is homocysteine in relation endothelium-dependent vasodilatation? This divided into parts. Part I includes studies which we investigated whether variation genes coding for major regulating enzymes metabolism (e.g. BHMT SHMT) associated with elevated levels (chapters 2-3). In part II have role endothelium-derived hyperpolarizing factor (EDHF)-mediated vasodilatation, connexins cytochrome P450 small renal arterioles hyperhomocysteinemic rats 4-6) and, examined hyperhomocysteinemia aorta microarray analysis 7-8) studied a common polymorphism eNOS gene (chapter 9).