Cargando…

Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases

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 w...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9332235/
https://www.ncbi.nlm.nih.gov/pubmed/35892638
http://dx.doi.org/10.3390/antiox11081436
_version_ 1784758596393762816
author 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
author_facet 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
author_sort Scarabino, Daniela
collection PubMed
description 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.
format Online
Article
Text
id pubmed-9332235
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-93322352022-07-29 Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases 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 Antioxidants (Basel) Article 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. MDPI 2022-07-24 /pmc/articles/PMC9332235/ /pubmed/35892638 http://dx.doi.org/10.3390/antiox11081436 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
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
Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases
title Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases
title_full Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases
title_fullStr Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases
title_full_unstemmed Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases
title_short Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases
title_sort leukocyte telomere length variability as a potential biomarker in patients with polyq diseases
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9332235/
https://www.ncbi.nlm.nih.gov/pubmed/35892638
http://dx.doi.org/10.3390/antiox11081436
work_keys_str_mv AT scarabinodaniela leukocytetelomerelengthvariabilityasapotentialbiomarkerinpatientswithpolyqdiseases
AT venezianoliana leukocytetelomerelengthvariabilityasapotentialbiomarkerinpatientswithpolyqdiseases
AT fiorealessia leukocytetelomerelengthvariabilityasapotentialbiomarkerinpatientswithpolyqdiseases
AT nethisinghesuran leukocytetelomerelengthvariabilityasapotentialbiomarkerinpatientswithpolyqdiseases
AT mantuanoelide leukocytetelomerelengthvariabilityasapotentialbiomarkerinpatientswithpolyqdiseases
AT garciamorenohector leukocytetelomerelengthvariabilityasapotentialbiomarkerinpatientswithpolyqdiseases
AT belluccigianmarco leukocytetelomerelengthvariabilityasapotentialbiomarkerinpatientswithpolyqdiseases
AT solankynita leukocytetelomerelengthvariabilityasapotentialbiomarkerinpatientswithpolyqdiseases
AT morellomaria leukocytetelomerelengthvariabilityasapotentialbiomarkerinpatientswithpolyqdiseases
AT zanniginevra leukocytetelomerelengthvariabilityasapotentialbiomarkerinpatientswithpolyqdiseases
AT corborosamaria leukocytetelomerelengthvariabilityasapotentialbiomarkerinpatientswithpolyqdiseases
AT giuntipaola leukocytetelomerelengthvariabilityasapotentialbiomarkerinpatientswithpolyqdiseases