ArticleOrphanet journal of rare diseases2016
Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 25 citations in OpenAlex.
- Epigenetic Insights into Tuberous Sclerosis Complex, Von Hippel-Lindau Syndrome, and Ataxia-Telangiectasia.Epigenomes · 2025Review
- MicroRNAs Fine-Tune Brain and Body Communication in Health and Disease : MicroRNAs in Brain-Body Communication.Advances in experimental medicine and biology · 2025Review
- mTOR/miR-142-3p/PRAS40 signaling cascade is critical for tuberous sclerosis complex-associated renal cystogenesis.Cellular & molecular biology letters · 2024Article
- Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years.Nature communications · 2023Article
- miR-222-3p-containing macrophage-derived extracellular vesicles confer gemcitabine resistance via TSC1-mediated mTOR/AKT/PI3K pathway in pancreatic cancer.Cell biology and toxicology · 2023Article
- MicroRNA Expression Profile in TSC Cell Lines and the Impact of mTOR Inhibitor.International journal of molecular sciences · 2022Article
- Pathogenesis and Therapeutic Targets of Focal Cortical Dysplasia Based on Bioinformatics Analysis.Neurochemical research · 2022Article
- STAT3/miR-130b-3p/MBNL1 feedback loop regulated by mTORC1 signaling promotes angiogenesis and tumor growth.Journal of experimental & clinical cancer research : CR · 2022Article
- mTOR Inhibitor Treatment in Patients with Tuberous Sclerosis Complex Is Associated with Specific Changes in microRNA Serum Profile.Journal of clinical medicine · 2022Article
- Article
- Identification of clinically relevant biomarkers of epileptogenesis - a strategic roadmap.Nature reviews. Neurology · 2021Review
- Article
- Emerging Role of MiR-192-5p in Human Diseases.Frontiers in pharmacology · 2021Review
- miR‑378a‑3p inhibits cellular proliferation and migration in glioblastoma multiforme by targeting tetraspanin 17.Oncology reports · 2019Article
- Discovery and validation of blood microRNAs as molecular biomarkers of epilepsy: Ways to close current knowledge gaps.Epilepsia open · 2018Review
- A distinct microRNA expression profile is associated with α[Neurobiology of disease · 2018Article
- MicroRNA-induced silencing in epilepsy: Opportunities and challenges for clinical application.Developmental dynamics : an official publication of the American Association of Anatomists · 2018Review
- Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia.Scientific reports · 2017Article
- Role of miRNAs in human disease and inborn errors of metabolism.Journal of inherited metabolic disease · 2017Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTuberous sclerosis (TSC) is a monogenic disease resulting from defects of the TSC1 or TSC2 genes, which encode the proteins forming hamartin-tuberin tumor suppressor complex, the mammalian target of rapamycin complex (mTOR). The mTOR pathway is constitutively activated in response to tuberin or hamartin defects. The mTOR pathway is also regulated by a multitude of epigenetic mechanisms, one of which is regulation by microRNA (miRNA) inhibition. This leads us to hypothesize that organ-level abnormalities of miRNA expression patterns are widespread in TSC. The aim of the study was to evaluate the serum profiles of miRNAs in patients with TSC and subependymal giant cell astrocytoma (SEGA) treated with mTOR inhibitor (everolimus).
methodsSerum microRNA profiling was performed in 10 TSC-patients before and three months after everolimus treatment, as well as in 10 sex- and age-matched healthy controls. MicroRNAs were profiled using qPCR panels (Exiqon).
resultsOf 752 tested miRNAs, 11 showed statistically significant dysregulation in patients with TSC in comparison to controls. The following miRNAs were downregulated in TSC: miR-142-3p, miR-199a-5p, miR-142-5p and miR-136-5p; while miR-130a-3p, miR-378a-3p, miR-130b-3p, miR-192-5p, miR-25-3p, miR-215-5p and miR-222-3p were upregulated in TSC in comparison to the control group. After three months of everolimus treatment, mean dose 5.1 (2.6-9.7) mg/m
conclusionsActivation of the mTOR pathway in TSC patients alters serum miRNA levels, which may be partially reversed by an mTOR inhibitor. This indicates the involvement of miRNA dysregulation in the pathogenesis of TSC, linking miRNA profiles with treatment efficiency.
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