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RNA Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (28 February 2022) | Viewed by 7791

Special Issue Editor

Special Issue Information

Dear Colleagues,

This research topic addresses human diseases caused by a malfunction of RNA metabolism processes. In eukaryotes, RNAs are transcribed from genome DNA. Transcribed RNA molecules undergo multiple post-transcriptional processes such as splicing, editing, modification, transport, translation, and degradation. A defect, misregulation, or malfunction of these RNA metabolism processes often results in diseases in humans, referred to as 'RNA diseases'. There is an increasing number of studies focused on RNA diseases, which are aimed at uncovering the fundamental molecular mechanisms to find therapeutic approaches.

As the Guest Editor of this Special Issue, “RNA Diseases”, in IJMS, I expect submissions from many researchers working on the wide spectrum of physiological processes in which RNAs are involved. This Special Issue will gather manuscripts that address various RNA diseases caused by defects in RNA metabolism, such as splicing, editing, modification, transport, localization, translation, and degradation. Examples of topics for this Special Issue include linking the basic science—elucidation of molecular mechanisms for RNA regulation—and the implications and applications for therapeutic approaches of RNA diseases. Manuscripts focusing on the potential role of RNAs in diagnosis and therapy of RNA, as well as aberrant splicing and mis-splicing in human disease, are also welcome. Formats suitable for submissions include original research reports, reviews, perspectives/opinions, and methodology articles.

Dr. Naoyuki Kataoka
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • RNA processing
  • RNA transport
  • RNA localization
  • RNA editing
  • RNA synthesis
  • RNA stability
  • RNA modification
  • translation
  • RNA metabolism
  • human diseases

Published Papers (2 papers)

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Review

34 pages, 1689 KiB  
Review
RNA Deregulation in Amyotrophic Lateral Sclerosis: The Noncoding Perspective
by Pietro Laneve, Paolo Tollis and Elisa Caffarelli
Int. J. Mol. Sci. 2021, 22(19), 10285; https://doi.org/10.3390/ijms221910285 - 24 Sep 2021
Cited by 17 | Viewed by 4104
Abstract
RNA metabolism is central to cellular physiopathology. Almost all the molecular pathways underpinning biological processes are affected by the events governing the RNA life cycle, ranging from transcription to degradation. The deregulation of these processes contributes to the onset and progression of human [...] Read more.
RNA metabolism is central to cellular physiopathology. Almost all the molecular pathways underpinning biological processes are affected by the events governing the RNA life cycle, ranging from transcription to degradation. The deregulation of these processes contributes to the onset and progression of human diseases. In recent decades, considerable efforts have been devoted to the characterization of noncoding RNAs (ncRNAs) and to the study of their role in the homeostasis of the nervous system (NS), where they are highly enriched. Acting as major regulators of gene expression, ncRNAs orchestrate all the steps of the differentiation programs, participate in the mechanisms underlying neural functions, and are crucially implicated in the development of neuronal pathologies, among which are neurodegenerative diseases. This review aims to explore the link between ncRNA dysregulation and amyotrophic lateral sclerosis (ALS), the most frequent motoneuron (MN) disorder in adults. Notably, defective RNA metabolism is known to be largely associated with this pathology, which is often regarded as an RNA disease. We also discuss the potential role that these transcripts may play as diagnostic biomarkers and therapeutic targets. Full article
(This article belongs to the Special Issue RNA Diseases)
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15 pages, 2278 KiB  
Review
Mechanistic Insights of Aberrant Splicing with Splicing Factor Mutations Found in Myelodysplastic Syndromes
by Naoyuki Kataoka, Eri Matsumoto and So Masaki
Int. J. Mol. Sci. 2021, 22(15), 7789; https://doi.org/10.3390/ijms22157789 - 21 Jul 2021
Cited by 6 | Viewed by 2951
Abstract
Pre-mRNA splicing is an essential process for gene expression in higher eukaryotes, which requires a high order of accuracy. Mutations in splicing factors or regulatory elements in pre-mRNAs often result in many human diseases. Myelodysplastic syndrome (MDS) is a heterogeneous group of chronic [...] Read more.
Pre-mRNA splicing is an essential process for gene expression in higher eukaryotes, which requires a high order of accuracy. Mutations in splicing factors or regulatory elements in pre-mRNAs often result in many human diseases. Myelodysplastic syndrome (MDS) is a heterogeneous group of chronic myeloid neoplasms characterized by many symptoms and a high risk of progression to acute myeloid leukemia. Recent findings indicate that mutations in splicing factors represent a novel class of driver mutations in human cancers and affect about 50% of Myelodysplastic syndrome (MDS) patients. Somatic mutations in MDS patients are frequently found in genes SF3B1, SRSF2, U2AF1, and ZRSR2. Interestingly, they are involved in the recognition of 3′ splice sites and exons. It has been reported that mutations in these splicing regulators result in aberrant splicing of many genes. In this review article, we first describe molecular mechanism of pre-mRNA splicing as an introduction and mainly focus on those four splicing factors to describe their mutations and their associated aberrant splicing patterns. Full article
(This article belongs to the Special Issue RNA Diseases)
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