Huntington´s Disease - Molecular Pathogenesis and Current Models

0483018 - ÚŽFG 2018 RIV GB eng M - Monography Chapter
Rausová, Petra - Vochozková, Petra - Vidinská, Daniela - Hrnčiarová, Eva - Bohuslavová, Božena - Mačáková, Monika - Valeková, Ivona - Juhás, Štefan - Ardan, Taras - Šolc, Petr - Motlík, Jan - Ellederová, Zdeňka
Porcine Model of Huntington´s Disease.
Huntington´s Disease - Molecular Pathogenesis and Current Models. London: Intech, 2017 - (Tunah, N.), s. 75-94. ISBN 978-953-51-3050-5
R&D Projects: GA MŠMT(CZ) LO1609
Institutional support: RVO:67985904
Keywords : large animal models * pig * huntingtin
OECD category: Technologies involving identifying the functioning of DNA, proteins and enzymes and how they influence the onset of disease and maintenance of well-being (gene-based diagnostics and therapeutic interventions (pharmacogenomics, gene-based therapeutics)
https://www.intechopen.com/books/huntington-s-disease-molecular-pathogenesis-and-current-models/porcine-model-of-huntington-s-disease

At present, we are probably the only research facility to be breeding transgenic Huntington's disease minipigs (TgHD). These minipigs express N‐terminal part of human mutated huntingtin including 124Q under the control of human huntingtin promoter. The founder animal, born in 2009, gave birth to four subsequent generations with an equal contribution of wild‐type (WT) and transgenic (TgHD) piglets in all litters. We take different approaches, some of which are unique for large animal models, to study the phenotype development comparing WT and TgHD siblings. In this chapter, we review these approaches and the phenotype progression in the minipigs. Additionally, we outline perspectives in generation of new models using novel methodology and the potential of pig models in preclinical HD studies.
Permanent Link: http://hdl.handle.net/11104/0278444