Hypertension, hypercholesterolemia, hyperaldosteronism: a genetic perspective for personalized therapy.

Massimo, Gianmichele (2014) Hypertension, hypercholesterolemia, hyperaldosteronism: a genetic perspective for personalized therapy. , [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze farmacologiche e tossicologiche, dello sviluppo e del movimento umano, 26 Ciclo. DOI 10.6092/unibo/amsdottorato/6473.
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Essential, primary, or idiopathic hypertension is defined as high BP in which secondary causes such as renovascular disease, renal failure, pheochromocytoma, hyperaldosteronism, or other causes of secondary hypertension are not present. Essential hypertension accounts for 80-90% of all cases of hypertension; it is a heterogeneous disorder, with different patients having different causal factors that may lead to high BP. Life-style, diet, race, physical activity, smoke, cultural level, environmental factors, age, sex and genetic characteristics play a key role in the increasing risk. Conversely to the essential hypertension, secondary hypertension is often associated with the presence of other pathological conditions such as dyslipidaemia, hypercholesterolemia, diabetes mellitus, obesity and primary aldosteronism. Amongst them, primary aldosteronism represents one of the most common cause of secondary hypertension, with a prevalence of 5-15% depending on the severity of blood pressure. Besides high blood pressure values, a principal feature of primary aldosteronism is the hypersecretion of mineralcorticoid hormone, aldosterone, in a manner that is fairly autonomous of the renin-angiotensin system. Primary aldosteronism is a heterogeneous pathology that may be divided essentially in two groups, idiopathic and familial form. Despite all this knowledge, there are so many hypertensive cases that cannot be explained. These individuals apparently seem to be healthy, but they have a great risk to develop CVD. The lack of known risk factors makes difficult their classification in a scale of risk. Over the last three decades a good help has been given by the pharmacogenetics/pharmacogenomics, a new area of the traditional pharmacology that try to explain and find correlations between genetic variation, (rare variations, SNPs, mutations), and the risk to develop a particular disease.

Tipologia del documento
Tesi di dottorato
Massimo, Gianmichele
Dottorato di ricerca
Scuola di dottorato
Scienze biologiche, biomediche e biotecnologiche
Settore disciplinare
Settore concorsuale
Parole chiave
Aldosteronmism, KCNJ5 potassium-channel, singular-nucleotide-polymorphism, hypertension.
Data di discussione
7 Aprile 2014

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