Original title: Double strand DNA breaks response in Huntington´s disease transgenic minipigs
Authors: Vaškovičová, Michaela ; Šmatlíková, Petra ; Herbert, A. ; Motlík, Jan ; Šolc, Petr
Document type: Papers
Conference/Event: Animal Models of Neurodegenerative Diseases /4./, Liblice (CZ), 20171022
Year: 2017
Language: eng
Abstract: Huntington’s disease (HD) is progressive neurodegenerative disorder caused by presence of CAG expansion in the huntingtin gene, which gives rise to mutated form of huntingtin protein (mHtt). There is a strong evidence that DNA damage response is compromised by presence of mHtt in cells and increase of double strand DNA breaks (DSBs) is an early event in HD pathology. It was shown, that level of γH2AX is significantly higher in R6/2 mice compared to wild-type animals. Moreover, level of γH2AX is higher also in striatal neurons and fibroblasts of human HD patients. Furthermore, protein p53, key player in DNA damage response, is hyperactivated in cells expressing mHtt and inhibition of p53 or ATM ameliorates phenotypes of HD animal models. However, exact mechanism of mHtt action is not clear and therefore further investigation of mHtt effects on DSBs response is very important for the understanding of HD pathology.
Keywords: transgenic minipigs
Project no.: LO1609 (CEP), 7F14308 (CEP)
Funding provider: GA MŠk, GA MŠk
Host item entry: The 4th Animal Models of Neurodegenerative Diseases

Institution: Institute of Animal Physiology and Genetics AS ČR (web)
Document availability information: Fulltext is available at the institute of the Academy of Sciences.
Original record: http://hdl.handle.net/11104/0280251

Permalink: http://www.nusl.cz/ntk/nusl-371508


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Research > Institutes ASCR > Institute of Animal Physiology and Genetics
Conference materials > Papers