Translational Research in Serious Human Diseases

0536494 - ÚŽFG 2021 RIV CZ eng M - Monography Chapter
Vaškovičová, Michaela - Šolc, Petr
Double-strand DNA breaks response and Huntington´s disease.
Translational Research in Serious Human Diseases. Praha: Academia, 2020 - (Kello, M.; Strnadel, J.; Klempir, J.; Roth, J.; Myslivcová-Fučíková, A.; Hansíková, H.; Kozák, I.), s. 37-42. ISBN 978-80-200-3158-7
R&D Projects: GA MŠMT(CZ) LO1609
Institutional support: RVO:67985904
Keywords : DNA damage response * double-stranded DNA breaks * homologous recombination
OECD category: Cell biology

Double-strand DNA breaks (DSBs) are considered as the most harmful DNA lesions, as only one unrepaired DSB is sufficient to trigger chromosomal rearrangements, senescence, or cell death. In recent years, it was proposed that alterations in response to DSBs could contribute to pathology of neurodegenerative diseases, including Huntington's disease. Huntington's disease is a neurodegenerative disorder caused by the expansion of CAG trinucleotide repeats in the huntingtin gene giving rise to mutated form of huntingtin protein (mHTT). Recent findings suggest that presence of mHTT may affect one type of the double-strand DNA breaks repair, the non-homologous end joining. It is suggested that impairment of DSBs repair occurs long before clinical diagnostic of Huntington's disease.
Permanent Link: http://hdl.handle.net/11104/0314266