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REVIEW article

Front. Mol. Neurosci.
Sec. Neuroplasticity and Development
Volume 17 - 2024 | doi: 10.3389/fnmol.2024.1414949
This article is part of the Research Topic Come as You R(NA): Post-transcriptional Regulation Will Do the Rest View all 6 articles

The role of DEAD-and DExH-box RNA helicases in neurodevelopmental disorders

Provisionally accepted
Johannes Lederbauer Johannes Lederbauer 1Sarada Das Sarada Das 2Amelie Piton Amelie Piton 3Davor Lessel Davor Lessel 1*Hans-Jürgen Kreienkamp Hans-Jürgen Kreienkamp 2*
  • 1 Salzburg State Clinics, Paracelsus Medical University, Salzburg, Salzburg, Austria
  • 2 University Medical Center Hamburg-Eppendorf, Hamburg, Hamburg, Germany
  • 3 Université de Strasbourg, Strasbourg, Alsace, France

The final, formatted version of the article will be published soon.

    Neurodevelopmental disorders (NDDs) represent a large group of disorders with an onset in the neonatal or early childhood period; NDDs include intellectual disability (ID), autism spectrum disorders (ASD), attention deficit hyperactivity disorders (ADHD), seizures, various motor disabilities and abnormal muscle tone. Among the many underlying Mendelian genetic causes for these conditions, genes coding for proteins involved in all aspects of the gene expression pathway, ranging from transcription, splicing, translation to the eventual RNA decay, feature rather prominently. Here we focus on two large families of RNA helicases (DEAD-and DExH-box helicases). Genetic variants in the coding genes for several helicases have recently been shown to be associated with NDD. We address genetic constraints for helicases, types of pathological variants which have been discovered and discuss the biological pathways in which the affected helicase proteins are involved.Introduction. RNA helicases use energy from the hydrolysis of ATP to unwind double stranded sections of RNA/RNA or RNA/DNA hybrids, and may also assist in the restructuring of RNA/protein complexes (ribonucleoproteins, RNPs). They carry out essential cellular functions, many of which are conserved from yeast to humans (Linder and Jankowsky, 2011). Accordingly, the distinct families of these helicases are also highly conserved throughout eukaryotic evolution (Pyle, 2008). Six major helicase superfamilies have been identified (SF1-SF6) which have distinct functions in several aspects of DNA and RNA metabolism (Fairman-Williams et al., 2010). While members of SF3-6 superfamilies are active in a "toroidal", hexameric form, SF1 and SF2 are active as monomers. SF1 and SF2

    Keywords: stress granules (SGs), P-bodies (PB), miRNA, translation, R-loop

    Received: 09 Apr 2024; Accepted: 22 Jul 2024.

    Copyright: © 2024 Lederbauer, Das, Piton, Lessel and Kreienkamp. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Davor Lessel, Salzburg State Clinics, Paracelsus Medical University, Salzburg, A-5020, Salzburg, Austria
    Hans-Jürgen Kreienkamp, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Hamburg, Germany

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.