Expression Profiles of Exosomal MicroRNAs Derived from Cerebrospinal Fluid in Patients with Congenital Hydrocephalus Determined by MicroRNA Sequencing

Abstract

Purpose. Congenital hydrocephalus is one of the most common birth defects worldwide. Exosomal microRNAs (miRNAs) in body fluids have been implicated in many diseases. However, their involvement in cerebrospinal fluid from congenital hydrocephalus is not well understood. This study is aimed at investigating the role of dysregulated exosomal miRNAs in congenital hydrocephalus. Methods. We collected cerebrospinal fluid samples from 15 congenital hydrocephalus patients and 21 control subjects. We used miRNA sequencing to generate exosomal miRNA expression profiles in three pairs of samples. We identified 31 differentially expressed exosomal miRNAs in congenital hydrocephalus and predicted their target mRNAs. Results. Three microRNAs (hsa-miR-130b-3p, hsa-miR-501-5p, and hsa-miR-2113) were selected according to their fold changes and the function of their target mRNAs, and only hsa-miR-130b-3p and hsa-miR-501-5p were confirmed their expression levels in all samples. Moreover, upregulated hsa-miR-130b-3p might mediate the downregulation of the phosphatase and tensin homolog gene (PTEN), which has been associated with hydrocephalus, via binding to its 3 ′ -untranslated region by dual-luciferase reporter assay. Conclusion. This study implicates that abnormally expressed exosomal miRNAs in cerebrospinal fluid may be involved in the pathomechanism of congenital hydrocephalus.

Comprehensive exosomal microRNA profile and construction of competing endogenous RNA network in autism spectrum disorder: A pilot study

“…Yoneda et al [ 28 ] identified hsa-miR-501-5p as a serum biomarker of chronic periodontitis. In addition, hsa-miR-501-5p, a significantly downregulated exosomal miRNA, has been detected in cerebrospinal fluid from congenital hydrocephalus patients [ 29 ]. No studies have reported the relationships of hsa_circ_0044724, hsa_circ_0137527, and hsa_circ_0117503 with diseases.…”

TRPV4 mRNA is elevated in the caudate nucleus with NPH but not in Alzheimer’s disease

“…With the sample size applied in the current findings, it is not yet reasonable to predict or utilize other mRNA markers as a diagnostic tool for AD (compared to control) given the number of other studies that have examined far larger cohort sizes ( Georganopoulou et al, 2005 ; Holtta et al, 2013 ). Although assaying mRNA in the blood ( Ekici et al, 2010 ) or CSF with NPH has been rarely reported, we found that an attempt has been made to detect microRNA in the CSF of patients with congenital hydrocephalus ( Chen et al, 2022 ). Nevertheless, we envision that the data presented in this report on a more specific marker gene like TRPV4 and MAPT in NPH can significantly improve the prior cases reporting misdiagnosis of either AD or NPH ( Joseph et al, 2006 ; Joseph et al, 2008 ; Lee et al, 2010 ; Shimada et al, 2011 ).…”

Recommendations for reproducibility of cerebrospinal fluid extracellular vesicle studies

“…Orthogonal techniques to validate RNA‐seq and direct detection/hybridisation data can be used to promote reproducibility of results. For the 64 CSF EV studies that analysed RNA, eight articles (13%) used both RNA‐seq and qPCR (Chen et al., 2022; Hou et al., 2019; Lee et al., 2021; Otake et al., 2019; Prieto‐Fernández et al., 2019; Saugstad et al., 2017; Torii et al., 2022; Yagi et al., 2017), four (6%) used both direct digital detection/hybridisation arrays and qPCR (Feliciano et al., 2014; He et al., 2019; Kim et al., 2020; Wang et al., 2020), and one (2%) used both RNA‐seq and direct digital detection/hybridisation arrays (Tietje et al., 2014).…”