Circular RNA expression in ALS is progressively deregulated and tissue-dependent
Moreno-García, Leticia ; Moreno-Martínez, Laura (Universidad de Zaragoza) ; de la Torre, Miriam ; Macías-Redondo, Sofía ; García-Redondo, Alberto ; Osta, Rosario (Universidad de Zaragoza) ; Toivonen, Janne Markus (Universidad de Zaragoza) ; Calvo, Ana Cristina (Universidad de Zaragoza)
Resumen: Background
There is increasing evidence on the role of circular RNAs (circRNAs) in neuronal and muscular processes. Accordingly, their dysregulation is associated with neurodegenerative diseases and myopathies. We investigated circRNA expression in the central nervous system (CNS) and skeletal muscle, the two main tissues affected in amyotrophic lateral sclerosis (ALS).
Results
Based on circRNA sequencing analysis in spinal cord from ALS mice (SOD1G93A) followed by a literature search, 30 circRNAs potentially involved in ALS were tested. All selected circRNAs were downregulated in the SOD1G93A spinal cord, whereas only half of these were quantifiable and were generally upregulated in quadriceps muscle of SOD1G93A mice. Such tissue-dependent expression pattern was observed in both sexes and circRNA abundance in the spinal cord was higher than in the muscle, both in wild type and in SOD1G93A mice. Finally, we assessed the 18 circRNAs with the largest expression differences and the highest degree of interspecies conservation in brain samples from sporadic ALS (sALS) patients and healthy controls. Similar to the mouse model, circRNA levels tended to decrease in the CNS of sALS patients.
Conclusions
Expression of circRNAs may be systematically altered in the two tissues most affected by ALS in a progressive and opposed manner. Although more detailed studies are warranted, circRNAs are potentially related to ALS etiopathogenesis and could possibly serve as future biomarkers, therapeutic targets, or customized therapeutic tools to modulate the pathology.
Idioma: Inglés
DOI: 10.1186/s12864-025-11725-4
Año: 2025
Publicado en: BMC Genomics 26 (2025), 576 [21 pp.]
ISSN: 1471-2164
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/CB18-05-0037
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/FEDER/PI21-00372
Financiación: info:eu-repo/grantAgreement/ES/MICINN-AEI/PRTR-C17.I1
Financiación: info:eu-repo/grantAgreement/ES/UZ/2018-BIO-03
Tipo y forma: Artículo (Versión definitiva)
Área (Departamento): Área Genética (Dpto. Anatom.,Embri.Genét.Ani.)
Área (Departamento): Área Farmacología (Dpto. Farmac.Fisiol.y Med.L.F.)
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Exportado de SIDERAL (2025-11-13-15:00:40)
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There is increasing evidence on the role of circular RNAs (circRNAs) in neuronal and muscular processes. Accordingly, their dysregulation is associated with neurodegenerative diseases and myopathies. We investigated circRNA expression in the central nervous system (CNS) and skeletal muscle, the two main tissues affected in amyotrophic lateral sclerosis (ALS).
Results
Based on circRNA sequencing analysis in spinal cord from ALS mice (SOD1G93A) followed by a literature search, 30 circRNAs potentially involved in ALS were tested. All selected circRNAs were downregulated in the SOD1G93A spinal cord, whereas only half of these were quantifiable and were generally upregulated in quadriceps muscle of SOD1G93A mice. Such tissue-dependent expression pattern was observed in both sexes and circRNA abundance in the spinal cord was higher than in the muscle, both in wild type and in SOD1G93A mice. Finally, we assessed the 18 circRNAs with the largest expression differences and the highest degree of interspecies conservation in brain samples from sporadic ALS (sALS) patients and healthy controls. Similar to the mouse model, circRNA levels tended to decrease in the CNS of sALS patients.
Conclusions
Expression of circRNAs may be systematically altered in the two tissues most affected by ALS in a progressive and opposed manner. Although more detailed studies are warranted, circRNAs are potentially related to ALS etiopathogenesis and could possibly serve as future biomarkers, therapeutic targets, or customized therapeutic tools to modulate the pathology.
Idioma: Inglés
DOI: 10.1186/s12864-025-11725-4
Año: 2025
Publicado en: BMC Genomics 26 (2025), 576 [21 pp.]
ISSN: 1471-2164
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/CB18-05-0037
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/FEDER/PI21-00372
Financiación: info:eu-repo/grantAgreement/ES/MICINN-AEI/PRTR-C17.I1
Financiación: info:eu-repo/grantAgreement/ES/UZ/2018-BIO-03
Tipo y forma: Artículo (Versión definitiva)
Área (Departamento): Área Genética (Dpto. Anatom.,Embri.Genét.Ani.)
Área (Departamento): Área Farmacología (Dpto. Farmac.Fisiol.y Med.L.F.)
Debe reconocer adecuadamente la autoría, proporcionar un enlace a la licencia e indicar si se han realizado cambios. Puede hacerlo de cualquier manera razonable, pero no de una manera que sugiera que tiene el apoyo del licenciador o lo recibe por el uso que hace. No puede utilizar el material para una finalidad comercial. Si remezcla, transforma o crea a partir del material, no puede difundir el material modificado.Exportado de SIDERAL (2025-11-13-15:00:40)
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Este artículo se encuentra en las siguientes colecciones:
Artículos > Artículos por área > Farmacología
Artículos > Artículos por área > Genética
Registro creado el 2025-07-22, última modificación el 2025-11-13