TY  - JOUR
TI  - Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases
KW  - biomarkers
KW  -  leukocyte telomere length
KW  -  neurodegenerative diseases
KW  -  spinocerebellar ataxias
UR  - https://doi.org/10.3390/antiox11081436
VL  - 11
PB  - MDPI AG
Y1  - 2022/08//
A1  - Scarabino, Daniela
A1  - Veneziano, Liana
A1  - Fiore, Alessia
A1  - Nethisinghe, Suran
A1  - Mantuano, Elide
A1  - Garcia-Moreno, Hector
A1  - Bellucci, Gianmarco
A1  - Solanky, Nita
A1  - Morello, Maria
A1  - Zanni, Ginevra
A1  - Corbo, Rosa Maria
A1  - Giunti, Paola
IS  - 8
N2  - 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.
JF  - Antioxidants
AV  - public
ID  - discovery10153096
SN  - 2076-3921
N1  - 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.
ER  -