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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Main Authors: Verónica Marusa Borgonio-Cuadra, Aranza Meza-Dorantes, Nonanzit Pérez-Hernández, José Manuel Rodríguez-Pérez, Jonathan J. Magaña
Format: Article
Language:English
Published: MDPI AG 2025-03-01
Series:Current Issues in Molecular Biology
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Online Access:https://www.mdpi.com/1467-3045/47/3/170
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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.
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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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