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.

Leukocyte telomere length variability as a potential biomarker in patients with polyQ diseases / Scarabino, D.; Veneziano, L.; Fiore, A.; Nethisinghe, S.; Mantuano, E.; Garcia-Moreno, H.; Bellucci, G.; Solanky, N.; Morello, M.; Zanni, G.; Corbo, R. M.; Giunti, P.. - In: ANTIOXIDANTS. - ISSN 2076-3921. - 11:8(2022). [10.3390/antiox11081436]

Leukocyte telomere length variability as a potential biomarker in patients with polyQ diseases

Veneziano L.;Mantuano E.;Bellucci G.;Corbo R. M.
;
2022

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.
2022
biomarkers; leukocyte telomere length; neurodegenerative diseases; spinocerebellar ataxias
01 Pubblicazione su rivista::01a Articolo in rivista
Leukocyte telomere length variability as a potential biomarker in patients with polyQ diseases / Scarabino, D.; Veneziano, L.; Fiore, A.; Nethisinghe, S.; Mantuano, E.; Garcia-Moreno, H.; Bellucci, G.; Solanky, N.; Morello, M.; Zanni, G.; Corbo, R. M.; Giunti, P.. - In: ANTIOXIDANTS. - ISSN 2076-3921. - 11:8(2022). [10.3390/antiox11081436]
File allegati a questo prodotto
File Dimensione Formato  
Scarabino_Leukocyte_2022.pdf

accesso aperto

Tipologia: Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza: Creative commons
Dimensione 2.67 MB
Formato Adobe PDF
2.67 MB Adobe PDF

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1672546
Citazioni
  • ???jsp.display-item.citation.pmc??? 1
  • Scopus 2
  • ???jsp.display-item.citation.isi??? 2
social impact