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Non-Coding RNA in Rare Genetic Diseases
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Non-Coding RNA in Rare Genetic Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (20 November 2021) | Viewed by 8563

Special Issue Editor

Dr. Tiziana Bachetti

E-Mail Website
Guest Editor
1. Laboratorio di Neurobiologia dello Sviluppo, Università di Genova, Genova, Italy
2. UOSD Laboratorio di Genetica e Genomica delle Malattie Rare, IRCCS Giannina Gaslini, Genova, Italy
Interests: molecular genetics; cellular biology; autophagy; pediatric genetic disorders; congenital central hypoventilation syndrome (CCHS); Alexander disease; Zebrafish models

Special Issue Information

Dear Colleagues,

The vast majority of the genome produces transcripts that are not translated into proteins and are generally defined as non-coding RNA (ncRNA); however, several studies have revealed that they are not silent and that most of them play a crucial role in regulating gene expression.

Depending on their nature, long-ncRNA, microRNA and circRNA molecules can act through different mechanisms by interfering with transcriptional and/or post-transcriptional control; an increasing number of studies show that causative or common variants in ncRNA sequences or their targets can be associated with their functional alteration, thus resulting in the development of many different diseases. In addition, ncRNA expression can be considered a biomarker for pathological conditions, thus improving diagnostic approaches.

This Special Issue focuses on the role of ncRNAs in the molecular pathogenesis of rare diseases, particularly focusing on their dysregulation and possible use as targets for molecular diagnosis and developing therapies for this class of disorders, which often lack specific treatments.

Dr. Tiziana Bachetti
Guest Editor

Manuscript Submission Information

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Keywords

  • Non-coding RNA (ncRNA)
  • MicroRNA (miRNA)
  • Long non-coding RNA (lncRNA)
  • Circular RNA (circRNA)
  • 3’ UTR
  • miRNA sponge
  • Gene expression regulation
  • Gene expression profiles
  • Molecular target
  • Rare disease
  • Mutation
  • Common variant

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Published Papers (2 papers)

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Research

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15 pages, 299 KiB  
Article
Urinary Extracellular Vesicles and Their miRNA Cargo in Patients with Fabry Nephropathy
by Tina Levstek, Teo Mlinšek, Marija Holcar, Katja Goričar, Metka Lenassi, Vita Dolžan, Bojan Vujkovac and Katarina Trebušak Podkrajšek
Genes 2021, 12(7), 1057; https://doi.org/10.3390/genes12071057 - 9 Jul 2021
Cited by 8 | Viewed by 3624
Abstract
Current biomarkers of Fabry nephropathy lack sensitivity in detecting early kidney damage and do not predict progression of nephropathy. Urinary extracellular vesicles (uEVs) and their molecular cargo could reflect early changes in renal impairment as they are secreted by the cells lining the [...] Read more.
Current biomarkers of Fabry nephropathy lack sensitivity in detecting early kidney damage and do not predict progression of nephropathy. Urinary extracellular vesicles (uEVs) and their molecular cargo could reflect early changes in renal impairment as they are secreted by the cells lining the urinary tract. We aimed to conduct a proof-of-concept study to investigate whether analysis of uEV characteristics and expression of uEV-derived microRNAs (miRNAs) could be applicable in studies to predict the development and progression of nephropathy in Fabry disease. A total of 20 Fabry patients were divided into two groups, depending on the presence of nephropathy. Chronological urine samples collected during 10-year follow-up were used for uEVs isolation with size exclusion chromatography. Nanoparticle tracking analysis was used to determine concentration and size of uEVs. We evaluated the expression of five uEV-derived miRNAs by qPCR (miR-23a-3p, miR-29a-3p, miR-30b-5p, miR-34a-5p, miR-200a-3p). There was no difference in the concentration and size of uEVs between patients with and without nephropathy at last follow-up or longitudinally. However, we found increased expression of miR-29a-3p and miR-200a-3p in uEVs isolated from chronological samples of patients with Fabry nephropathy. This may indicate an attempt by the organism to prevent the progression of renal damage leading to end-stage renal disease as previously reported in type 1 diabetes. In addition, we found an increased expression of miR-30b-5p in the 10-year period in uEVs of patients without renal dysfunction. miR-30b-5 was reported to have a protective role in podocyte injury and may possibly be important in Fabry nephropathy. These findings indicate that uEVs and their molecular cargo could be a promising target of studies focusing on elucidation of Fabry nephropathy. Nevertheless, total concentration and size of uEVs were neither indicative of the presence nor progression of Fabry nephropathy, while the role of the analyzed miRNAs in Fabry nephropathy progression was merely indicated and needs further in-depth studies. Full article
(This article belongs to the Special Issue Non-Coding RNA in Rare Genetic Diseases)
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Review

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18 pages, 1158 KiB  
Review
Non-Coding RNA in Systemic Sclerosis: A Valuable Tool for Translational and Personalized Medicine
by Marta Rusek and Dorota Krasowska
Genes 2021, 12(9), 1296; https://doi.org/10.3390/genes12091296 - 24 Aug 2021
Cited by 8 | Viewed by 3986
Abstract
Epigenetic factors are heritable and ultimately play a role in modulating gene expression and, thus, in regulating cell functions. Non-coding RNAs have growing recognition as novel biomarkers and crucial regulators of pathological conditions in humans. Their characteristic feature is being transcribed in a [...] Read more.
Epigenetic factors are heritable and ultimately play a role in modulating gene expression and, thus, in regulating cell functions. Non-coding RNAs have growing recognition as novel biomarkers and crucial regulators of pathological conditions in humans. Their characteristic feature is being transcribed in a tissue-specific pattern. Now, there is emerging evidence that lncRNAs have been identified to be involved in the differentiation of human skin, wound healing, fibrosis, inflammation, and immunological response. Systemic sclerosis (SSc) is a heterogeneous autoimmune disease characterized by fibrosis, vascular abnormalities, and immune system activation. The pathogenesis remains elusive, but clinical manifestations reveal autoimmunity with the presence of specific autoantibodies, activation of innate and adaptive immunity, vascular changes, and active deposition of extracellular matrix components leading to fibrosis. The use of multi-omics studies, including NGS, RNA-seq, or GWAS, has proposed that the non-coding genome may be a significant player in its pathogenesis. Moreover, it may unravel new therapeutic targets in the future. The aim of this review is to show the pathogenic role of long non-coding RNAs in systemic sclerosis. Investigation of these transcripts’ functions has the potential to elucidate the molecular pathology of SSc and provide new opportunities for drug-targeted therapy for this disorder. Full article
(This article belongs to the Special Issue Non-Coding RNA in Rare Genetic Diseases)
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