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A Seed Sequence Variant in miR-145-5p causes Multisystem Smooth Muscle Dysfunction Syndrome (MSMDS)

ABSTRACT: A Seed Sequence Variant in miR-145-5p causes Multisystem Smooth Muscle Dysfunction Syndrome (MSMDS)

PROVIDER: PRJNA908096 | ENA |

REPOSITORIES: ENA

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A Seed Sequence Variant in miR-145-5p causes Multisystem Smooth Muscle Dysfunction Syndrome (MSMDS)

Project description:Multisystem smooth muscle dysfunction syndrome (MSMDS) is a smooth muscle myopathy with major dysfunction in multiple organ systems. Described cases have been exclusively associated with recurrent missense variants at amino acid position 179 in the ACTA2 gene. We describe a patient with multiple major manifestations of MSMDS including steno-occlusive cerebrovascular arteriopathy, prune belly syndrome, gastrointestinal dysmotility, bladder dysfunction, and pupillary hyporeactivity without variation in ACTA2. Whole genome sequencing revealed a single nucleotide variant contained within the seed sequence of MIR145, which encodes the smooth muscle associated microRNA; hsa-miR-145-5p. RNA expression analysis on patient-derived fibroblasts was consistent with actin cytoskeletal dysfunction, and mutant miR-145-5p was unable to mediate cytoskeletal modulation of smooth muscle cells. MSMDS can be caused by a loss-of-function mutation in the smooth muscle differentiation factor, miR-145-5p, the first described non-coding genetic vasculopathy.

2023-12-14 | GSE220038 | GEO

Gene expression profiles of U87 cells after transfection with hsa-miR-145-5p and 31-5p

Project description:We analyzed the expression profiles of hsa-miR-145-5p or hsa-miR-31-5p-targeting genes relating to invasion or migration after co-overexpression of hsa-miR-145-5p and 31-5p Gene expression profiles of U87 cells after co-transfection with hsa-miR-145-5p and 31-5p mimics, and U87 cells after transfection miR mimic negative control

2016-06-23 | E-GEOD-83643 | biostudies-arrayexpress

Gene expression profiles of U87 cells after transfection with hsa-miR-145-5p and 31-5p

Project description:We analyzed the expression profiles of hsa-miR-145-5p or hsa-miR-31-5p-targeting genes relating to invasion or migration after co-overexpression of hsa-miR-145-5p and 31-5p

2016-06-23 | GSE83643 | GEO

Expression analysis of Hsa-miR-145-5p overexpressed laryngeal squamous carcinoma cell line TU177

Project description:Investigation of whole genome gene expression level changes in laryngeal squamous carcinoma cell line TU177 in response to overexpressed miR-145-5p. Differentially expressed protein-coding genes in the human laryngeal squamous carcinoma cells TU177 overexpressing miR-145-5p were identified by microarray analysis.

2017-12-31 | GSE92678 | GEO

Exosomal miR-145-5p derived from plasma of ARDS promotes apoptosis of renal tubule epithelial cells by JNK signal pathway

Project description:This experiment is designed to investigate the impact of exosomal miR-145-5p on the functional pathway and molecules on RPTEC cells. Data-independent acquisition (DIA) proteomics was conducted in the RPTEC cells transfected with miR-145-5p mimic or scramble control.

2023-03-28 | PXD041158 |

Trimethylamine N-oxide Aggravates Neuro-inflammation via lncRNA Fendrr/miR-145-5p/PXN axis in Vascular Dementia Rats

Project description:Vascular dementia (2VO) is the second-most cause of dementia, and our previous investigation showed that Trimethylamine-N-oxide (TMAO) exacerbates cognitive dysfunction and neuropathological changes in 2VO rats. Therefore, this study is aimed to evaluate the mechanism of TMAO in 2VO. Bilateral common carotid artery (2VO) model was established in rats and TMAO (120 mg/kg) was administered for 8 consecutive weeks, 4 weeks preoperatively and 4 weeks postoperatively. High-throughput sequencing was performed to find out the effects of TMAO treatment on lncRNA expression in rat hippocampus and bioinformatics analysis was conducted to identify potential downstream targets. Learning and spatial memory capacities were measured, as well as inflammatory factors. Nissl staining was used to observe neuronal injury in the CA1 area of the hippocampus. TMAO administration upregulated lncRNA Fendrr expression in the rat hippocampus, while the damaging effects of TMAO were counteracted after knockdown of Fendrr. Fendrr was highly expressed in 2VO rats and sponged miR-145-5p, which targets PXN. Silencing of Fendrr or PXN, or promotion of miR-145-5p improved neurological function injury, reduced neuronal damage, as well as repressed inflammation response. Inhibition of miR-145-5p abrogated up Fendrr knockdown mediated influence on 2VO rats. Taken together, our results showed that TMAO inhibits the miR-145-5p/PXN axis by increasing the Fendrr expression, thus exacerbating the development of 2VO.

2024-10-30 | GSE249873 | GEO

lncRNA n384546 promotes thyroid papillary cancer proliferation and migration by targeting miR-145-5p to regulate AKT3

Project description:we document a novel lncRNA, n384546, which may exert its oncogenic property in PTC tumorigenesis by sponging miR-145-5p and then regulating its target AKT3.This study reveals that n384546 is an oncogenic lncRNA in human thyroid cancer.

2019-06-16 | GSE124841 | GEO

Impact of miR-143-3p and miR-145-5p overexpression on human M238P melanoma cells

Project description:To identify putative novel specific targets of miR-143-3p and miR-145-5p, we overexpressed these miRNAs in BRAFV600E mutant human M238P melanoma cells using synthetic mimics or a synthetic “negative” control mimic (miR-Neg). RNA samples were harvested 48 hours post-transfection and 2 independent experiments were carried out.

2021-12-29 | GSE171880 | GEO

Umbilical Mesenchymal Stem Cell-derived Exosomes Facilitate Spinal Cord Functional Recovery Through miR-199a-3p/145-5p mediated NGF/TrkA Signaling Pathway in Rats

Project description:Background: Though exosomes, as the by-products of human umbilical cord mesenchymal stem cells (hUC-MSCs), have been demonstrated to be an effective therapy for traumatic spinal cord injury (SCI), it remains unclear through which manner exosomes act. Aim: In order to figure out whether exosomes attenuate lesion size of SCI by the amelioration of neuronal injury triggered by secondary inflammatory storm and induction of inner motivation of neurite outgrowth, we designed and performed this experiment. Methods: We determined absolute contents of all exosomal miRNAs and investigated the potential mechanisms of miR-199a-3p/145-5p in inducing neurite outgrowth in vivo and vitro. Results: miR-199a-3p/145-5p, which were relatively top-ranking miRNAs in exosomes, promoted PC12 cells differentiation suppressed by lipopolysaccharide (LPS) in vitro through the modulation of NGF/TrkA pathway. We also demonstrated that Cblb was the direct target of miR-199a-3p and Cbl was the direct target of miR-145-5p. Cblb and Cbl genes knock down revealed that TrkA ubiquitylation level significantly decreased, subsequently, activating the NGF/TrkA downstream pathways Akt and Erk. In return, overexpression of Cblb and Cbl suggested that TrkA ubiquitylation level significantly increased, subsequently, inactivating the NGF/TrkA downstream pathways Akt and Erk. Western blot and co-immunoprecipitation confirmed the direct interaction between TrkA and Cblb, TrkA and Cbl. In vivo experiment, exosomal miR-199a-3p/145-5p were found to up-regulate TrkA expression in the lesion site and promote locomotor function of SCI rats as well. Conclusion: In summary, our study suggested that hUC-MSCs derived exosomes may treat SCI by transferring miR-199a-3p/145-5p to neurons, and modulating TrkA ubiquitylation, and strengthening the NGF/TrkA signaling pathway in SCI rats.

2020-12-08 | GSE159814 | GEO

Loss of miR-145 promotes remyelination and functional recovery in a model of chronic centrel demyelination

Project description:Strategies for treating progressive multiple sclerosis (MS) remain limited. Here, we found that miR-145-5p is overabundant uniquely in chronic lesion tissues from secondary progressive MS patients. We induced both acute and chronic demyelination in miR-145 knockout mice to determine its contributions to remyelination failure. Following acute demyelination, no advantage to miR-145 loss could be detected. However, after chronic demyelination, animals with miR-145 loss demonstrated increased remyelination and functional recovery, coincident with altered presence of astrocytes and microglia within the corpus callosum relative to wild-type animals. This improved response in miR-145 knockout animals coincided with a pathological upregulation of miR-145-5p in wild-type animals with chronic cuprizone exposure, paralleling human chronic lesions. Furthermore, miR-145 overexpression specifically in oligodendrocytes (OLs) severely stunted differentiation and negatively impacted survival. RNAseq analysis showed altered transcriptome in these cells with downregulated major pathways involved in myelination. Our data suggest that pathological accumulation of miR-145-5p is a distinctive feature of chronic demyelination and is strongly implicated in the failure of remyelination, possibly due to the inhibition of OL differentiation together with alterations in other glial cells. This is mirrored in chronic MS lesions, and thus miR-145-5p serves as a potential relevant therapeutic target in progressive forms of MS.

2024-05-31 | GSE268808 | GEO

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