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Pathogenesis of nephrotic syndrome in children and predictors of corticosteroid treatment response
Bezdíčka, Martin ; Souček, Ondřej (advisor) ; Doležel, Zdeněk (referee) ; Reiterová, Jana (referee)
Nephrotic syndrome is a kidney disease caused by injury of the podocytes. It can be secondary due to infection, systemic disease or certain drugs, but it may also present as sudden primary nephrotic syndrome without obvious inducer. Current standard treatment has many severe adverse effects. In some patients that are resistant to the initial several-week-long glucocorticoid treatment it is possible to reveal the causative genetic aetiology of the disease, whereas in the rest of them aetiology remains unknown. Those who respond well to initial glucocorticoid treatment and achieve remission may later on develop repeated relapses requiring long-term glucocorticoid therapy. This work describes our original research studies focusing on the improvement of genetic diagnostics of nephrotic syndrome, on the exploration of molecular mechanisms of the second most common genetic cause of the steroid-resistant nephrotic syndrome (transcription factor WT1 mutants) and on the search of clinical and laboratory factors that could predict the resistence to glucocorticoid treatment. By combining Sanger and next-generation sequencing (NGS) we were the first to identify monogenic cause in 38 % of Czech and Slovak children with steroid-resistant nephrotic syndrome whose samples had been collected for 18 years. The most...
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Prions in yeast
Bezdíčka, Martin ; Palková, Zdena (advisor) ; Žíla, Vojtěch (referee)
The thesis describes yeast prions and their biological effects on yeast in general. It defines the basic characteristics of yeast prions, that distinguish prions from other proteins. The thesis introduces various possibilities of prion formation, and propagation as well as specific types of yeast prions, including various functions of most studied types of prions. The thesis also focuses on chaperones that affect the state of yeast prions in cells. Lastly, the thesis indicates similarities between yeast prions and mammalian prions that are related to neurodegenerative diseases. Key words: Yeast prions, features of yeast prions, chaperones, neurodegenerative disease, Saccharomyces cerevisiae
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Role of the low-molecular metabolites in the development of yeast colonies
Bezdíčka, Martin ; Palková, Zdena (advisor) ; Dostál, Jiří (referee)
Previous research of colonies formed by yeast Saccharomyces cerevisiae growing on glycerol agar medium revealed two major cell types of U and L cells that are formed within these colonies. This colonial cell differentiation seem to be caused by communication among yeast cells as well as whole colonies and affected by changes in the environment (for example changes in nutrients). Studies of U and L cells showed that U cells are more resistant against biological, chemical and physical stresses than L cells. The aim of this thesis was to isolate U and L cell types and investigate their resistance against selected low molecular weight chemical substances produced in Ehrlich pathway. Ehrlich pathway was discovered in 1907 and was classified as amino acid catabolic pathway in yeast S. cerevisiae. The low molecular intermediates are formed in Ehrlich pathway which are called fusel (original name from German) alcohols and acids. These chemical substances are widely used in food industry and cosmetics especially because of their aroma. Several studies provided indications that these chemical substances may affect development of colonies and important yeast functions such as switching to the pseudohypfal growth of S. cerevisiae cells. Some chemical substances of the Ehrlich pathway were selected and their effects on...
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Prions in yeast
Bezdíčka, Martin ; Palková, Zdena (advisor) ; Žíla, Vojtěch (referee)
The thesis describes yeast prions and their biological effects on yeast in general. It defines the basic characteristics of yeast prions, that distinguish prions from other proteins. The thesis introduces various possibilities of prion formation, and propagation as well as specific types of yeast prions, including various functions of most studied types of prions. The thesis also focuses on chaperones that affect the state of yeast prions in cells. Lastly, the thesis indicates similarities between yeast prions and mammalian prions that are related to neurodegenerative diseases. Key words: Yeast prions, features of yeast prions, chaperones, neurodegenerative disease, Saccharomyces cerevisiae
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