Original title:
Patogeneze Huntingtonovy choroby v periferních tkáních
Translated title:
Pathogenesis of Huntington's disease in peripheral tissues
Authors:
Vachútová, Dominika ; Motlík, Jan (advisor) ; Fiala, Ondřej (referee) Document type: Bachelor's theses
Year:
2014
Language:
slo Abstract:
[eng][cze] Huntington's disease (HD) is an autosomal dominant inherited disorder with manifest of symptoms around the age of 40. This disorder is caused by an expansion of CAG repeats in huntingtin gene, Huntingtin (Htt) is a protein expressed in almost all tissues. HD is mainly characterized by neurodegeneration in the basal ganglia and cerebral cortex, but mutation in huntingtin have also serious influence on peripheral tissues. Many studies show serious heart dysfunction, weight loss, altered glucose homeostasis, impairment of energetic metabolism and muscular atrophy in HD patients and animal models. Till now, mechanism of these changes has not been sufficiently described and there is nor an adequate treatment yet. Key words: Huntington's disease, mutated huntingtin, CAG repeat, peripheral tissueHuntingtonova choroba (HD) je neurodegeneratívne autozomálne dominantné dedičné ochorenie s nástupom prejavov až v dospelosti. Ochorenie je spôsobené expanziou CAG repetícií v géne pre proteín huntingtin, ktorý je exprimovaný vo väčšine tkanív. HD je charakteristická predovšetkým odumieraním buniek bazálnych ganglií a mozgovej kôry, ale poškodenie huntingtinu má závažný dopad aj na periférne tkanivá. Boli zistené závažné srdečné dysfunkcie, strata váhy, narušenie energetického metabolizmu, pozmenená glukózová homeostáza, atrofia svalstva a veľa ďalších. Mechanizmy týchto zmien nie sú stále dostatočne popísané a ani neexistuje adekvátna liečba. Kľúčové slová: Huntingtonova choroba, mutovaný huntingtin, CAG opakovanie, periférne tkanivo
Keywords:
CAG repeat; Huntington's disease; mutated huntingtin; peripheral tissue; CAG opakování; Huntingtonova choroba; mutovaný huntingtin; periferní tkáň
Institution: Charles University Faculties (theses)
(web)
Document availability information: Available in the Charles University Digital Repository. Original record: http://hdl.handle.net/20.500.11956/72828