Sporadic amyotrophic lateral sclerosis skeletal muscle transcriptome analysis: a comprehensive examination of differentially expressed genes

Gascón, Elisa (Universidad de Zaragoza) ; Zaragoza, Pilar (Universidad de Zaragoza) ; Calvo, Ana Cristina (Universidad de Zaragoza) ; Osta, Rosario (Universidad de Zaragoza)

Resumen: Amyotrophic lateral sclerosis (ALS) that comprises sporadic (sALS) and familial (fALS) cases, is a devastating neurodegenerative disorder characterized by progressive degeneration of motor neurons, leading to muscle atrophy and various clinical manifestations. However, the complex underlying mechanisms affecting this disease are not yet known. On the other hand, there is also no good prognosis of the disease due to the lack of biomarkers and therapeutic targets. Therefore, in this study, by means of bioinformatics analysis, sALS-affected muscle tissue was analyzed using the GEO GSE41414 dataset, identifying 397 differentially expressed genes (DEGs). Functional analysis revealed 320 up-regulated DEGs associated with muscle development and 77 down-regulated DEGs linked to energy metabolism. Protein–protein interaction network analysis identified 20 hub genes, including EIF4A1, HNRNPR and NDUFA4. Furthermore, miRNA target gene networks revealed 17 miRNAs linked to hub genes, with hsa-mir-206, hsa-mir-133b and hsa-mir-100-5p having been previously implicated in ALS. This study presents new potential biomarkers and therapeutic targets for ALS by correlating the information obtained with a comprehensive literature review, providing new potential targets to study their role in ALS.

Idioma: Inglés

DOI: 10.3390/biom14030377

Año: 2024

Publicado en: Biomolecules 14, 3 (2024), 377 [13 pp.]
ISSN: 2218-273X

Financiación: info:eu-repo/grantAgreement/ES/DGA/A19-23R
Financiación: info:eu-repo/grantAgreement/ES/FIS/PI17-00949

Tipo y forma: Artículo (Versión definitiva)

Área (Departamento): Área Genética (Dpto. Anatom.,Embri.Genét.Ani.)