Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies

Pegoraro, Valentina; Angelini, C.

doi:10.3390/genes12010085

Cited by 14 publications

(12 citation statements)

References 43 publications

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“…A total 6 DEMs (hsa-miR-4503, hsa-miR-206, hsa-miR-548as-3p, hsa-miR-3127-5p, hsa-miR-5194, and hsa-miR-3591-5p) were identified for further analyses. The hsa-miR-206 level was demonstrated as a biomarker for multiple cancers [ 25 , 26 ] and correlated with muscle function and disease [ 27 , 28 ]. hsa-miR-3127-5p was identified as a key gene fundamental apparatus of melanoma [ 29 ].…”

Section: Discussionmentioning

confidence: 99%

Recognition of the Possible miRNA-mRNA Controlling Network in Stroke by Bioinformatics Examination

Yang

2021

Computational and Mathematical Methods in Medicine

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Background. Based on the latest research of WHO, it has been revealed that more than 15 million people suffer from stroke every year worldwide. Of these 15 million people, 6 million succumb to death, and 5 million get permanently disabled. This is the prime reason for the substantial economic burden on all parts of the world. Methods. These data have been obtained from the GEO database, and the GEO2R tool was used to find out the differentially expressed miRNAs (DEMs) between the stroke and normal patients’ blood. FunRich and miRNet were considered to find potential upstream transcription factors and downstream target genes of candidate EMRs. Next, we use GO annotation and KEGG pathway enrichment. Target genes were analyzed with the help of the R software. Then, the STRING database and Cytoscape software were used to conduct PPI and DEM-hub gene networks. Finally, GSE58294 was used to estimate the hub gene expressions. Results. Six DEMs in total were selected out from GSE95204 and GSE117064 datasets. 663 DEMs’ target genes were predicted, and NRF1, EGR1, MYC, YY1, E2F1, SP4, and SP1 were predicted as an upstream transcription factor for DEMs’ target genes. Target genes of DEMs were primarily augmented in the PI3K-Akt signaling pathway and p53 signaling pathway. The network construction of DEM hygiene is potentially modulated by hsa-miR-3591-5p, hsa-miR-548as-3p, hsa-miR-206, and hsa-miR-4503 hub genes which were found among the top 10 of the hub genes. Among the top 10 hub genes, justification of CTNNB1, PTEN, ESR1, CCND1, KRAS, AKT1, CCND2, CDKN1B, and MYCN was constant with that in the GSE58294 dataset. Conclusion. In summary, our research first constructs the miRNA-mRNA network in stroke, which probably renders an awakening purview into the pathogenesis and cure of stroke.

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Section: Discussionmentioning

confidence: 99%

Recognition of the Possible miRNA-mRNA Controlling Network in Stroke by Bioinformatics Examination

Yang

2021

Computational and Mathematical Methods in Medicine

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“…miR-206 was also found to be significantly elevated in an LGMD patient cohort in comparison with a control group [10]. An over-expression of the same miRNA (50-80-fold) was detected in two patients with a severe and early disease course in transportinopathy (LGMD1F) and calpainopathy (LGMD2A).…”

Section: Micrornas In Muscular Dystrophiesmentioning

confidence: 81%

“…An over-expression of the same miRNA (50-80-fold) was detected in two patients with a severe and early disease course in transportinopathy (LGMD1F) and calpainopathy (LGMD2A). The functional impairment was observed clinically, and muscle loss and atrophy, documented by muscle MRI, provided the first evidence that miR-206 is associated with phenotypic expression and it could be used as a prognostic biomarker of LGMD disease progression [10].…”

Section: Micrornas In Muscular Dystrophiesmentioning

confidence: 99%

Circulating Biomarkers in Neuromuscular Disorders: What Is Known, What Is New

Barp¹,

Ferrero²,

Casagrande

et al. 2021

Biomolecules

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The urgent need for new therapies for some devastating neuromuscular diseases (NMDs), such as Duchenne muscular dystrophy or amyotrophic lateral sclerosis, has led to an intense search for new potential biomarkers. Biomarkers can be classified based on their clinical value into different categories: diagnostic biomarkers confirm the presence of a specific disease, prognostic biomarkers provide information about disease course, and therapeutic biomarkers are designed to predict or measure treatment response. Circulating biomarkers, as opposed to instrumental/invasive ones (e.g., muscle MRI or nerve ultrasound, muscle or nerve biopsy), are generally easier to access and less “time-consuming”. In addition to well-known creatine kinase, other promising molecules seem to be candidate biomarkers to improve the diagnosis, prognosis and prediction of therapeutic response, such as antibodies, neurofilaments, and microRNAs. However, there are some criticalities that can complicate their application: variability during the day, stability, and reliable performance metrics (e.g., accuracy, precision and reproducibility) across laboratories. In the present review, we discuss the application of biochemical biomarkers (both validated and emerging) in the most common NMDs with a focus on their diagnostic, prognostic/predictive and therapeutic application, and finally, we address the critical issues in the introduction of new biomarkers.

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“…As an example, miR-1 levels in the serum of LGMD patients, compared to Facioscapulohumeral muscular dystrophy (FSHD) and BMD patients, have been found to be higher. Recently, miR-206 was revealed as a potential biomarker for patients suffering from severe cases of LGMD [ 108 ].…”

Section: Limb-girdle Muscular Dystrophymentioning

confidence: 99%

Therapeutic Implications of miRNAs for Muscle-Wasting Conditions

Yedigaryan

Sampaolesi

2021

Cells

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MicroRNAs (miRNAs) are small, non-coding RNA molecules that are mainly involved in translational repression by binding to specific messenger RNAs. Recently, miRNAs have emerged as biomarkers, relevant for a multitude of pathophysiological conditions, and cells can selectively sort miRNAs into extracellular vesicles for paracrine and endocrine effects. In the overall context of muscle-wasting conditions, a multitude of miRNAs has been implied as being responsible for the typical dysregulation of anabolic and catabolic pathways. In general, chronic muscle disorders are associated with the main characteristic of a substantial loss in muscle mass. Muscular dystrophies (MDs) are a group of genetic diseases that cause muscle weakness and degeneration. Typically, MDs are caused by mutations in those genes responsible for upholding the integrity of muscle structure and function. Recently, the dysregulation of miRNA levels in such pathological conditions has been reported. This revelation is imperative for both MDs and other muscle-wasting conditions, such as sarcopenia and cancer cachexia. The expression levels of miRNAs have immense potential for use as potential diagnostic, prognostic and therapeutic biomarkers. Understanding the role of miRNAs in muscle-wasting conditions may lead to the development of novel strategies for the improvement of patient management.

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Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies

Cited by 14 publications

References 43 publications

Recognition of the Possible miRNA-mRNA Controlling Network in Stroke by Bioinformatics Examination

Recognition of the Possible miRNA-mRNA Controlling Network in Stroke by Bioinformatics Examination

Circulating Biomarkers in Neuromuscular Disorders: What Is Known, What Is New

Therapeutic Implications of miRNAs for Muscle-Wasting Conditions

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