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Genetic diseases of the liver
Šepsová, Marika ; Doleželová, Eva (advisor) ; Tripská, Katarína (referee)
Author: Marika Šepsová Title: Genetic diseases of the liver Form: Bachelor Thesis University: Charles University, Faculty of Pharmacy in Hradec Králové Degree: Medical Laboratory Technician Liver function may be affected by various factors including genetic diseases. The aim of this bachelor thesis is to collect and summarize current information about genetic diseases of the liver. Diseases with the highest incidence in the population are Dubin-Johnson syndrome, Rotor syndrome, Crigler-Najjar syndrome and Gilbert's syndrome. They are known as inherited hyperbilirubinemia characterized by an impairment in bilirubin metabolism. These genetic diseases are very rare with exception of Gilbert's syndrome. However, despite low prevalence and incidence it is necessary not to prolong their diagnosis. Most of them do not have any complications and do not require any treatment. The exception is Crigler-Najjar's syndrome, as untreated can have fatal consequences. Wilson's disease and hereditary hemochromatosis are inherited disorders of metal metabolism. Wilson's disease is a rare disease caused by an impairment in copper metabolism. Inherited hemochromatosis causes excessive iron deposition in the liver and other organs. Alpha-1 antitrypsin deficiency is characterized by impaired alpha-1 antitrypsin protein...
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Endoglin and livers
Jozefčeková, Nikola ; Doleželová, Eva (advisor) ; Prašnická, Alena (referee)
Author: Nikola Jozefčeková Title: Endoglin and liver Form: Diploma Thesis University: Charles University, Faculty of Pharmacy in Hradec Králové Degree: Pharmacy This diploma thesis concludes the available information about endoglin, its isoforms in the liver and its impact on the liver during various pathological conditions. In the first part of the thesis describes morphology and physiology of the liver, its structure, histology and metabolic functions. Second part contains an information about endoglin, its isoforms and role in TGF-β signaling complex, expression of endoglin and regulation of the expression. In the third part are described liver diseases during which is expression of endoglin changed. This part deals with the significance of endoglin as a diagnostic and prognostic marker. Endoglin (CD105, TGF-β receptor III) is a homodimeric transmembrane glycoprotein and a membrane co-receptor TGF-β with high expression in endothelial cells. Endoglin plays an important role in the vascular development. Endoglin is involved in the processes of angiogenesis, vascular homeostasis and TGF-β signalization. It affects activity of TGF-βRII, ALK1 and ALK5 receptors. Due to the interactions with TGF-β complex, modulation of activity of ALK receptors and Smads, endoglin controls fibrotic and anti-...
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