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Mitochondrial bioamarkers in Huntington's disease
Vizelka, Vera ; Hansíková, Hana (advisor) ; Dračínská, Helena (referee)
Huntington' s disease (HD) is a severe hereditary neurodegenerative disorder. The cause of this disease is a mutation of the gene that codes the protein huntingtin (htt). The mutation manifests itself as an abnormal extension of CAG triplets. In this way, a polyglutamine chain is formed in the htt molecule, which causes its fragmentation and aggregation. The result is a misfolded protein and this results in damage of neurons, especially in the area of striatum. The biochemical basis of neuronal death has not yet been clarified. Today, there is no effective treatment for HD. Htt participates in many different cellular processes, for example it participates in the regulation of transport events in the cell, participates in the transcription of some genes and also controls apoptosis. Mutated htt can be the cause of mitochondrial dysfunction. The consequence of the action of mutated htt is the occurrence of oxidative stress and subsequently the onset of the neurodegeneration process, but the exact state of mitochondria during the development of the HD has not yet been carefully investigated. Previous studies have studied mitochondrial disorders not only in the brain, but also in other extraneuronal tissues. The aim of the bachelor's thesis was to optimize the preparation of a sample from buccal smear...
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