In Silico Analysis of miRNA-Regulated Pathways in Spinocerebellar Ataxia Type 7
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease characterized by cerebellar ataxia and retinal degeneration, caused by an abnormal expansion of the CAG trinucleotide in the coding region of the ATXN7 gene. Currently, in silico analysis is used to explore mechanisms and...
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2025-03-01
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| author | Verónica Marusa Borgonio-Cuadra Aranza Meza-Dorantes Nonanzit Pérez-Hernández José Manuel Rodríguez-Pérez Jonathan J. Magaña |
| author_facet | Verónica Marusa Borgonio-Cuadra Aranza Meza-Dorantes Nonanzit Pérez-Hernández José Manuel Rodríguez-Pérez Jonathan J. Magaña |
| author_sort | Verónica Marusa Borgonio-Cuadra |
| collection | DOAJ |
| description | Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease characterized by cerebellar ataxia and retinal degeneration, caused by an abnormal expansion of the CAG trinucleotide in the coding region of the ATXN7 gene. Currently, in silico analysis is used to explore mechanisms and biological processes through bioinformatics predictions in various neurodegenerative diseases. Therefore, the aim of this study was to identify candidate human gene targets of four miRNAs (hsa-miR-29a-3p, hsa-miR-132-3p, hsa-miR-25-3p, and hsa-miR-92a-3p) involved in pathways that could play an important role in SCA7 pathogenesis through comprehensive in silico analysis including the prediction of miRNA target genes, Gen Ontology enrichment, identification of core genes in KEGG pathways, transcription factors and validated miRNA target genes with the mouse SCA7 transcriptome data. Our results showed the participation of the following pathways: adherens junction, focal adhesion, neurotrophin signaling, endoplasmic reticulum processing, actin cytoskeleton regulation, RNA transport, and apoptosis and dopaminergic synapse. In conclusion, unlike previous studies, we highlight using a bioinformatics approach the core genes and transcription factors involved in the different biological pathways and which ones are targets for the four miRNAs, which, in addition to being associated with neurodegenerative diseases, are also de-regulated in the plasma of patients with SCA7. |
| format | Article |
| id | doaj-art-48e6fe3fd7bb40f08dd1b66d1fff8e12 |
| institution | DOAJ |
| issn | 1467-3037 1467-3045 |
| language | English |
| publishDate | 2025-03-01 |
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| spelling | doaj-art-48e6fe3fd7bb40f08dd1b66d1fff8e122025-08-20T02:42:46ZengMDPI AGCurrent Issues in Molecular Biology1467-30371467-30452025-03-0147317010.3390/cimb47030170In Silico Analysis of miRNA-Regulated Pathways in Spinocerebellar Ataxia Type 7Verónica Marusa Borgonio-Cuadra0Aranza Meza-Dorantes1Nonanzit Pérez-Hernández2José Manuel Rodríguez-Pérez3Jonathan J. Magaña4Laboratory of Genomic Medicine, Department of Genetics, Instituto Nacional de Rehabilitation Luis Guillermo Ibarra Ibarra, Mexico City 14389, MexicoDepartment of Bioengineering, School of Engineering and Sciences, Tecnologico de Monterrey, Campus Ciudad de Mexico, Mexico City 14380, MexicoDepartment of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City 14080, MexicoDepartment of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City 14080, MexicoLaboratory of Genomic Medicine, Department of Genetics, Instituto Nacional de Rehabilitation Luis Guillermo Ibarra Ibarra, Mexico City 14389, MexicoSpinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease characterized by cerebellar ataxia and retinal degeneration, caused by an abnormal expansion of the CAG trinucleotide in the coding region of the ATXN7 gene. Currently, in silico analysis is used to explore mechanisms and biological processes through bioinformatics predictions in various neurodegenerative diseases. Therefore, the aim of this study was to identify candidate human gene targets of four miRNAs (hsa-miR-29a-3p, hsa-miR-132-3p, hsa-miR-25-3p, and hsa-miR-92a-3p) involved in pathways that could play an important role in SCA7 pathogenesis through comprehensive in silico analysis including the prediction of miRNA target genes, Gen Ontology enrichment, identification of core genes in KEGG pathways, transcription factors and validated miRNA target genes with the mouse SCA7 transcriptome data. Our results showed the participation of the following pathways: adherens junction, focal adhesion, neurotrophin signaling, endoplasmic reticulum processing, actin cytoskeleton regulation, RNA transport, and apoptosis and dopaminergic synapse. In conclusion, unlike previous studies, we highlight using a bioinformatics approach the core genes and transcription factors involved in the different biological pathways and which ones are targets for the four miRNAs, which, in addition to being associated with neurodegenerative diseases, are also de-regulated in the plasma of patients with SCA7.https://www.mdpi.com/1467-3045/47/3/170spinocerebellar ataxia type 7polyQ diseasemiRNAsin silico analysisbiomarkers |
| spellingShingle | Verónica Marusa Borgonio-Cuadra Aranza Meza-Dorantes Nonanzit Pérez-Hernández José Manuel Rodríguez-Pérez Jonathan J. Magaña In Silico Analysis of miRNA-Regulated Pathways in Spinocerebellar Ataxia Type 7 Current Issues in Molecular Biology spinocerebellar ataxia type 7 polyQ disease miRNAs in silico analysis biomarkers |
| title | In Silico Analysis of miRNA-Regulated Pathways in Spinocerebellar Ataxia Type 7 |
| title_full | In Silico Analysis of miRNA-Regulated Pathways in Spinocerebellar Ataxia Type 7 |
| title_fullStr | In Silico Analysis of miRNA-Regulated Pathways in Spinocerebellar Ataxia Type 7 |
| title_full_unstemmed | In Silico Analysis of miRNA-Regulated Pathways in Spinocerebellar Ataxia Type 7 |
| title_short | In Silico Analysis of miRNA-Regulated Pathways in Spinocerebellar Ataxia Type 7 |
| title_sort | in silico analysis of mirna regulated pathways in spinocerebellar ataxia type 7 |
| topic | spinocerebellar ataxia type 7 polyQ disease miRNAs in silico analysis biomarkers |
| url | https://www.mdpi.com/1467-3045/47/3/170 |
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