Overview of miRNAs for the non-invasive diagnosis of endometriosis: evidence, challenges and strategies. A systematic review

Monnaka, Vitor Ulisses; Hernandes, Camila; Heller, Débora; Podgaec, Sérgio

doi:10.31744/einstein_journal/2021rw5704

Cited by 16 publications

(19 citation statements)

References 100 publications

(134 reference statements)

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“…More than 2600 miRNAs have been identified in humans to date. Evaluation of these miRNAs in patients with endometriosis has shown that more than 200 are differentially expressed in patients with and without endometriosis [ 8 , 9 , 10 ] with some literature on their relevance in endometriosis’ diagnostic [ 11 , 12 , 13 ]. Among these 200 miRNAs, only a few have been analyzed with a view to better understanding the pathophysiology of endometriosis [ 14 , 15 ].…”

Section: Introductionmentioning

confidence: 99%

Clues for Improving the Pathophysiology Knowledge for Endometriosis Using Plasma Micro-RNA Expression

Dabi

Suisse²,

Jornéa

et al. 2022

Diagnostics

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The pathophysiology of endometriosis remains poorly understood. The aim of the present study was to investigate functions and pathways associated with the various miRNAs differentially expressed in patients with endometriosis. Plasma samples of the 200 patients from the prospective “ENDO-miRNA” study were analyzed and all known human miRNAs were sequenced. For each miRNA, sensitivity, specificity, and ROC AUC values were calculated for the diagnosis of endometriosis. miRNAs with an AUC ≥ 0.6 were selected for further analysis. A comprehensive review of recent articles from the PubMed, Clinical Trials.gov, Cochrane Library, and Web of Science databases was performed to identify functions and pathways associated with the selected miRNAs. In total, 2633 miRNAs were found in the patients with endometriosis. Among the 57 miRNAs with an AUC ≥ 0.6: 20 had never been reported before; one (miR-124-3p) had previously been observed in endometriosis; and the remaining 36 had been reported in benign and malignant disorders. miR-124-3p is involved in ectopic endometrial cell proliferation and invasion and plays a role in the following pathways: mTOR, STAT3, PI3K/Akt, NF-κB, ERK, PLGF-ROS, FGF2-FGFR, MAPK, GSK3B/β–catenin. Most of the remaining 36 miRNAs are involved in carcinogenesis through cell proliferation, apoptosis, and invasion. The three main pathways involved are Wnt/β–catenin, PI3K/Akt, and NF–KB. Our results provide evidence of the relation between the miRNA profiles of patients with endometriosis and various signaling pathways implicated in its pathophysiology.

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Section: Introductionmentioning

confidence: 99%

Clues for Improving the Pathophysiology Knowledge for Endometriosis Using Plasma Micro-RNA Expression

Dabi

Suisse²,

Jornéa

et al. 2022

Diagnostics

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“…Saliva is an increasingly attractive body fluid in the search for disease biomarkers [29][30][31][32]45,61]. miRNAs exhibit remarkable stability in severe conditions, such as extended storage [24,29,32,62].…”

Section: Discussionmentioning

confidence: 99%

“…Zheng et al demonstrated that saliva is not affected by coagulation that could induce a release of miRNAs. This is especially crucial as many studies evaluating miRNA expression in endometriosis have been performed on serum [23,61]. Zhang et al first developed a technique to stabilize the saliva and process RNA analysis.…”

Section: Discussionmentioning

confidence: 99%

Salivary MicroRNA Signature for Diagnosis of Endometriosis

Bendifallah

Suisse²,

Puchar

et al. 2022

JCM

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Background: Endometriosis diagnosis constitutes a considerable economic burden for the healthcare system with diagnostic tools often inconclusive with insufficient accuracy. We sought to analyze the human miRNAome to define a saliva-based diagnostic miRNA signature for endometriosis. Methods: We performed a prospective ENDO-miRNA study involving 200 saliva samples obtained from 200 women with chronic pelvic pain suggestive of endometriosis collected between January and June 2021. The study consisted of two parts: (i) identification of a biomarker based on genome-wide miRNA expression profiling by small RNA sequencing using next-generation sequencing (NGS) and (ii) development of a saliva-based miRNA diagnostic signature according to expression and accuracy profiling using a Random Forest algorithm. Results: Among the 200 patients, 76.5% (n = 153) were diagnosed with endometriosis and 23.5% (n = 47) without (controls). Small RNA-seq of 200 saliva samples yielded ~4642 M raw sequencing reads (from ~13.7 M to ~39.3 M reads/sample). Quantification of the filtered reads and identification of known miRNAs yielded ~190 M sequences that were mapped to 2561 known miRNAs. Of the 2561 known miRNAs, the feature selection with Random Forest algorithm generated after internally cross validation a saliva signature of endometriosis composed of 109 miRNAs. The respective sensitivity, specificity, and AUC for the diagnostic miRNA signature were 96.7%, 100%, and 98.3%. Conclusions: The ENDO-miRNA study is the first prospective study to report a saliva-based diagnostic miRNA signature for endometriosis. This could contribute to improving early diagnosis by means of a non-invasive tool easily available in any healthcare system.

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“…OS upregulates miRNA-302a by increased levels of tumor necrosis factor (TNF)-α, TNF-β and interleukin-1β. Upregulation of miRNA-199a and miRNA-16 promotes inflammation and cell proliferation in endometrial lesions [ 168 ]. The gold standard in diagnosing endometriosis is laparoscopy; however, miRNA can be validated as a diagnostic tool for detection, progression and prevention of endometriosis in large, independent cohorts of women, with and without endometriosis.…”

Section: Biomarkersmentioning

confidence: 99%

“…Despite the identification of several miRNAs, the studies are investigatory in nature. To date, no specific miRNA has been validated for diagnostic purposes (systematic review conducted on PubMed ® , Latin American and Caribbean Health Sciences Literature (LILACS), MEDLINE ® and Web of Science databases using the search terms endometriosis (all fields) AND miRNA (all fields), evaluating all publications up to May 2019) [ 168 ].…”

Section: Biomarkersmentioning

confidence: 99%

Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature)

Smolarz

Szyłło

Romanowicz

2021

IJMS

146

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Endometriosis is a “mysterious” disease and its exact cause has not yet been established. Among the etiological factors, congenital, environmental, epigenetic, autoimmune and allergic factors are listed. It is believed that the primary mechanism of the formation of endometriosis foci is retrograde menstruation, i.e., the passage of menstrual blood through the fallopian tubes into the peritoneal cavity and implantation of exfoliated endometrial cells. However, since this mechanism is also observed in healthy women, other factors must also be involved in the formation of endometriosis foci. Endometriosis is in many women the cause of infertility, chronic pain and the deterioration of the quality of life. It also represents a significant financial burden on health systems. The article presents a review of the literature on endometriosis—a disease affecting women throughout the world.

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Overview of miRNAs for the non-invasive diagnosis of endometriosis: evidence, challenges and strategies. A systematic review

Cited by 16 publications

References 100 publications

Clues for Improving the Pathophysiology Knowledge for Endometriosis Using Plasma Micro-RNA Expression

Clues for Improving the Pathophysiology Knowledge for Endometriosis Using Plasma Micro-RNA Expression

Salivary MicroRNA Signature for Diagnosis of Endometriosis

Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature)

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