Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report

Cardiac arrest (CA) is a common cause of death world wide. The disease has lacks effective treatment. Efforts have been made to elucidate the molecular pathogenesis of CA, but the molecular mechanisms remain elusive. To identify key genes and pathways in CA, the next generation sequencing (NGS) GSE200117 dataset was downloaded from the Gene Expression Omnibus (GEO) database. DESeq2 tool was used to recognize differentially expressed genes (DEGs). Gene ontology (GO) and REACTOME pathway enrichment analyses were performed to analyze the DEGs and associated signal pathways in the g:Profiler database. The IID database was used to construct the protein-protein interaction (PPI) network, and modules analysis was performed using Cytoscape. A miRNA-hub gene regulatory network and TF-hub gene regulatory network were then constructed to screen miRNAs, TFs and hub genes by miRNet and NetworkAnalyst database and Cityscape software. Receiver operating characteristic curve (ROC) analysis used to verified the hub genes. In total, 844 DEGs were identified, comprising 414 up regulated genes and 430 down regulated genes. GO and REACTOME pathway enrichment analyses indicated that the DEGs for CA were mainly enriched in organonitrogen compound metabolic process, response to stimulus, translation and immune system. Ten hub genes (up-regulated: HSPA8, HOXA1, INCA1 and TP53; down-regulated: HSPB1, LMNA, SNCA, ADAMTSL4 and PDLIM7) were screened. We also predicted miRNAs (hsa-mir-1914-5p and hsa-mir-598-3p) and TFs (JUN and PRRX2) targeting hub genes. This study uses a series of bioinformatics technologies to obtain hug genes, miRNAs and TFs, and key pathways related to CA. These analysis results provide us with new ideas for finding biomarkers and treatment methods for CA.

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ARV1 Gene: Another example for one gene many faces

Kamate

Basavanagowda

2023

Preprint

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Background: ARV1 mutation is known to present as Developmental epileptic encephalopathy (DEE)-38. However, the phenotypic spectrum has been expanding ever since it was reported in 2016. Along with the seizures and developmental delay other unique clinical features include ophthalmological abnormalities and movement disorders in the form of ataxia and dystonia especially in those with missense mutation. These manifestations mimic the common ataxia telangiectasia. Elevation of alpha feto-protein levels is an important investigative marker in the diagnosis of ataxia telangiectasia and some ataxia with oculomotor apraxia syndromes. ARV1can also be associated with increased alpha feto-protein. There are no reports evaluating alpha feto-protein levels in ARV1 mutation, which is significant in the context of ocular abnormalities with ataxia. Results: We report a case of ARV1 mutation presenting with ataxia, ocular abnormalities and elevated alpha feto-protein levels, thus mimicking autosomal recessive cerebellar ataxias. This study provides a comprehensive literature review of the cases reported so far, thus expanding the understanding of the spectrum of presentation, and helps in correlating the clinical picture with the underlying causative genetic mutation. Conclusion: ARV1gene is another example of one gene with phenotypic pleiotropy. Though presentation with DEE is a common presentation, a few of them especially those with missense mutations can present with ataxia and ocular abnormalities. All cases with ataxia who have increased alpha feto-protein levels and seizures should be tested for ARV1 gene when testing for ataxia genes is negative. Underlying genetic mechanism can explain the varying clinical manifestations of ARV1 gene.

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Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report

Cited by 3 publications

References 10 publications

ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein

ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein

The Identification of Key Genes and Biological Pathways in Cardiac Arrest by Integrated Bioinformatics and Next Generation Sequencing Data Analysis

ARV1 Gene: Another example for one gene many faces

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