Body fluid exosomes as potential carriers of Huntington’s disease biomarkers

0484450 - ÚŽFG 2018 CZ eng K - Konferenční příspěvek (tuzemská konf.)
Kupcová Skalníková, Helena - Červenka, Jakub - Bohuslavová, Božena - Turnovcová, Karolína - Vodička, Petr
Body fluid exosomes as potential carriers of Huntington’s disease biomarkers.
The 4th Animal Models of Neurodegenerative Diseases. Liběchov: ÚŽFG AV ČR, v. v. i., 2017, s. 15-16.
[Animal Models of Neurodegenerative Diseases /4./. Liblice (CZ), 22.10.2017-24.10.2017]
Grant CEP: GA MŠMT(CZ) LO1609
Institucionální podpora: RVO:67985904 ; RVO:68378041
Klíčová slova: Huntington´s disease
Obor OECD: Genetics and heredity (medical genetics to be 3)

Huntington’s disease (HD) is a hereditary neurodegenerative disorder characterized by a progressive motor, behavioural, and cognitive decline, ending in death. The cause of HD is an abnormal expansion of CAG repeats in HTT gene resulting in prolonged polyglutamine (polyQ) sequence in huntingtin protein (HTT). Huntingtin is a large protein (348 kDa) expressed ubiquitously through the body, with highest expression in the brain and testes. To study HD pathophysiology and to test experimental therapies, a transgenic HD minipig (TgHD) model expressing N-terminal part (N548-124Q) of human mutated huntingtin (mHTT) under the control of human huntingtin promoter was created in Libechov. Beside the mild neurological impairment, the TgHD boars show decreased fertility after 13th month of age.
Trvalý link: http://hdl.handle.net/11104/0279610