Patogenéza Huntingtonovej choroby v periférnych tkanivách
Pathogenesis of Huntington's disease in peripheral tissues
Patogeneze Huntingtonovy choroby v periferních tkáních
bachelor thesis (DEFENDED)
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http://hdl.handle.net/20.500.11956/72828Identifiers
Study Information System: 143608
Collections
- Kvalifikační práce [19109]
Author
Advisor
Consultant
Novotný, Jiří
Referee
Fiala, Ondřej
Faculty / Institute
Faculty of Science
Discipline
Biology
Department
Department of Physiology
Date of defense
10. 9. 2014
Publisher
Univerzita Karlova, Přírodovědecká fakultaLanguage
Slovak
Grade
Very good
Keywords (Czech)
Huntingtonova choroba, mutovaný huntingtin, CAG opakování, periferní tkáňKeywords (English)
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
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 tissue