Original title: Establishing preclinical proof-of-concept of gene therapy for Huntington disease
Authors: Miniariková, J. ; Juhás, Štefan ; Caron, N. ; Spronck, L. ; Vallés, A. ; De Haan, M. ; Blits, B. ; Ellederová, Zdeňka ; van Deventer, S. ; Petry, H. ; Southwell, A. ; Déglon, N. ; Motlík, Jan ; Konstantinová, P. ; Evers, M.
Document type: Papers
Conference/Event: Animal Models of Neurodegenerative Diseases /4./, Liblice (CZ), 20171022
Year: 2017
Language: eng
Abstract: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the HTT gene. The translated expanded polyglutamine repeat in the huntingtin protein is known to cause toxic gain-of-function, affecting numerous cellular processes. Our approach involves a new therapeutic modality by developing a single (one-time) treatment for HD based on a gene therapy lowering the expression of the toxic huntingtin using the RNA interference (RNAi) mechanism. Huntingtin lowering is achieved using gene transfer of a cassette encoding an engineered microRNA targeting human HTT, delivered via adeno-associated viral vector serotype 5 (AAV5-miHTT).
Keywords: Huntington´s disease
Project no.: LO1609 (CEP)
Funding provider: 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/11104/0280235

Permalink: http://www.nusl.cz/ntk/nusl-371499


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