ArticleActa neuropathologica communications2022
Circular RNA detection identifies circPSEN1 alterations in brain specific to autosomal dominant Alzheimer's disease.
Article in Acta neuropathologica communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26 citing papers in PubMed, 30 citations in OpenAlex.
- Recent advances in the detection and functional analysis of circRNAs with short-read RNA sequencing-based methods.Molecular biology reports · 2026Review
- Potential diagnostic markers in Alzheimer's disease: current perspectives and future directions.Neurodegenerative disease management · 2026Review
- CircRNAs: Novel biomarkers and therapeutic targets for diseases of the central nervous system.Biochemistry and biophysics reports · 2026Review
- Emerging roles of circular RNAs and enhancer RNAs: new insights into the development and management of neurodegenerative disorders.Biomarker research · 2026Review
- Presence of Alzheimer's disease variants in circular RNA ofJournal of Alzheimer's disease : JAD · 2025Article
- Circular RNAs in neurological conditions - computational identification, functional validation, and potential clinical applications.Molecular psychiatry · 2025Review
- Emerging role and clinical applications of circular RNAs in human diseases.Functional & integrative genomics · 2025Review
- RNA dysregulation in neurodegenerative diseases.The EMBO journal · 2025Review
- The Role of circRNAs in the Pathological Mechanisms of Alzheimer's Disease: Potential Biomarkers for Diagnosis.Current neuropharmacology · 2025Review
- Circular RNAs as Biomarkers in the Diagnosis of Human Diseases.Advances in experimental medicine and biology · 2025Review
- Quantitative Real-Time PCR for Circular RNA Detection and Analysis.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Circular RNAs as disease modifiers of complex neurologic disorders.Frontiers in pharmacology · 2025Review
- Circulating blood circular RNA in Parkinson's Disease; from involvement in pathology to diagnostic tools in at-risk individuals.NPJ Parkinson's disease · 2024Article
- The Applications of CircRNA in the Diagnosis and Treatment of Alzheimer's Disease.Molecular neurobiology · 2024Review
- Genetic and multi-omic resources for Alzheimer disease and related dementia from the Knight Alzheimer Disease Research Center.Scientific data · 2024Article
- Investigation of the Circular Transcriptome in Alzheimer's Disease Brain.Journal of molecular neuroscience : MN · 2024Article
- Brain high-throughput multi-omics data reveal molecular heterogeneity in Alzheimer's disease.PLoS biology · 2024Article
- Circulating blood circular RNA in Parkinson's Disease; a systematic study.medRxiv : the preprint server for health sciences · 2024Article
- Cell-free RNA signatures predict Alzheimer's disease.iScience · 2023Article
- Circular RNAs in the human brain are tailored to neuron identity and neuropsychiatric disease.Nature communications · 2023Article
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Authors and funding
23 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundAutosomal-dominant Alzheimer's disease (ADAD) is caused by pathogenic mutations in APP, PSEN1, and PSEN2, which usually lead to an early age at onset (< 65). Circular RNAs are a family of non-coding RNAs highly expressed in the nervous system and especially in synapses. We aimed to investigate differences in brain gene expression of linear and circular transcripts from the three ADAD genes in controls, sporadic AD, and ADAD.
methodsWe obtained and sequenced RNA from brain cortex using standard protocols. Linear counts were obtained using the TOPMed pipeline; circular counts, using python package DCC. After stringent quality control (QC), we obtained the counts for PSEN1, PSEN2 and APP genes. Only circPSEN1 passed QC. We used DESeq2 to compare the counts across groups, correcting for biological and technical variables. Finally, we performed in-silico functional analyses using the Circular RNA interactome website and DIANA mirPath software.
resultsOur results show significant differences in gene counts of circPSEN1 in ADAD individuals, when compared to sporadic AD and controls (ADAD = 21, AD = 253, Controls = 23-ADADvsCO: log
conclusionsOur findings show the differential expression of circPSEN1 is increased in ADAD. Given the biological function previously ascribed to circular RNAs and the results of our in-silico analyses, we hypothesize that this finding might be related to neuroinflammatory events that lead or that are caused by the accumulation of amyloid-beta.
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