RT info:eu-repo/semantics/article
T1 β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease
A1 Vittori, Angelica
A1 Orth, Michael
A1 Roos, Raymund A. C.
A1 Outeiro, Tiago F.
A1 Giorgini, Flaviano
A1 Hollox, Edward J.
A1 Cubo Delgado, Esther
A1 REGISTRY investigators of the European Huntington's Disease Network
K1 Genetic modifier
K1 Copy number variation
K1 Inflammation
K1 Sistema nervioso-Enfermedades
K1 Nervous system-Diseases
K1 Medicina
K1 Medicine
AB Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO), other genetic factors have also been shown to play a modulatory role. Recent evidence suggests that neuroinflammation is a pivotal factor in the pathogenesis of HD, and that targeting this process may have important therapeutic ramifications. The human β-defensin 2 (hBD2) – encoded by DEFB4 – is an antimicrobial peptide that exhibits inducible expression in astrocytes during inflammation and is an important regulator of innate and adaptive immune response. Therefore, DEFB4 may contribute to the neuroinflammatory processes observed in HD.
PB IOS Press
SN 1879-6397
YR 2013
FD 2013
LK http://hdl.handle.net/10259/8769
UL http://hdl.handle.net/10259/8769
LA eng
NO The authors thank contributors to the EHDN Registry study, listed in Appendix 1. AV is supported by Fundac¸ao para Ci ˜ enci ˆ aeaTecnologia (SFRH/ BD/4764/2008). TFO was supported by an EMBO Installation Grant and a Marie Curie International Reintegration Grant (Neurofold). FG was supported by a New Investigator Research Grant from the Medical Research Council (G0700090). EJH was supported by a New Investigator Research Grant from the Medical Research Council (GO801123).
DS Repositorio Institucional de la Universidad de Burgos
RD 09-may-2024