eprintid: 10153096
rev_number: 7
eprint_status: archive
userid: 699
dir: disk0/10/15/30/96
datestamp: 2022-08-03 15:35:35
lastmod: 2022-08-03 15:35:35
status_changed: 2022-08-03 15:35:35
type: article
metadata_visibility: show
sword_depositor: 699
creators_name: Scarabino, Daniela
creators_name: Veneziano, Liana
creators_name: Fiore, Alessia
creators_name: Nethisinghe, Suran
creators_name: Mantuano, Elide
creators_name: Garcia-Moreno, Hector
creators_name: Bellucci, Gianmarco
creators_name: Solanky, Nita
creators_name: Morello, Maria
creators_name: Zanni, Ginevra
creators_name: Corbo, Rosa Maria
creators_name: Giunti, Paola
title: Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases
ispublished: pub
divisions: C07
divisions: F84
divisions: B02
divisions: UCL
divisions: D07
keywords: biomarkers, leukocyte telomere length, neurodegenerative diseases, spinocerebellar ataxias
note: This is an open access article distributed under the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
abstract: SCA1, SCA2, and SCA3 are the most common forms of SCAs among the polyglutamine disorders, which include Huntington's Disease (HD). We investigated the relationship between leukocyte telomere length (LTL) and the phenotype of SCA1, SCA2, and SCA3, comparing them with HD. The results showed that LTL was significantly reduced in SCA1 and SCA3 patients, while LTL was significantly longer in SCA2 patients. A significant negative relationship between LTL and age was observed in SCA1 but not in SCA2 subjects. LTL of SCA3 patients depend on both patient's age and disease duration. The number of CAG repeats did not affect LTL in the three SCAs. Since LTL is considered an indirect marker of an inflammatory response and oxidative damage, our data suggest that in SCA1 inflammation is present already at an early stage of disease similar to in HD, while in SCA3 inflammation and impaired antioxidative processes are associated with disease progression. Interestingly, in SCA2, contrary to SCA1 and SCA3, the length of leukocyte telomeres does not reduce with age. We have observed that SCAs and HD show a differing behavior in LTL for each subtype, which could constitute relevant biomarkers if confirmed in larger cohorts and longitudinal studies.
date: 2022-08
date_type: published
publisher: MDPI AG
official_url: https://doi.org/10.3390/antiox11081436
oa_status: green
full_text_type: pub
language: eng
primo: open
primo_central: open_green
verified: verified_manual
elements_id: 1967695
doi: 10.3390/antiox11081436
medium: Electronic
pii: antiox11081436
lyricists_name: Garcia Moreno, Hector
lyricists_name: Nethisinghe, Suran
lyricists_id: HGARC46
lyricists_id: SDNET40
actors_name: Kalinowski, Damian
actors_id: DKALI47
actors_role: owner
full_text_status: public
publication: Antioxidants
volume: 11
number: 8
article_number: 1436
event_location: Switzerland
issn: 2076-3921
citation:        Scarabino, Daniela;    Veneziano, Liana;    Fiore, Alessia;    Nethisinghe, Suran;    Mantuano, Elide;    Garcia-Moreno, Hector;    Bellucci, Gianmarco;                     ... Giunti, Paola; + view all <#>        Scarabino, Daniela;  Veneziano, Liana;  Fiore, Alessia;  Nethisinghe, Suran;  Mantuano, Elide;  Garcia-Moreno, Hector;  Bellucci, Gianmarco;  Solanky, Nita;  Morello, Maria;  Zanni, Ginevra;  Corbo, Rosa Maria;  Giunti, Paola;   - view fewer <#>    (2022)    Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases.                   Antioxidants , 11  (8)    , Article 1436.  10.3390/antiox11081436 <https://doi.org/10.3390/antiox11081436>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/10153096/1/Garcia%20Moreno_Leukocyte%20Telomere%20Length%20Variability%20as%20a%20Potential%20Biomarker%20in%20Patients%20with%20PolyQ%20Diseases_VoR.pdf