Your new experience awaits. Try the new design now and help us make it even better

PERSPECTIVE article

Front. Neurosci.

Sec. Neurogenomics

Volume 19 - 2025 | doi: 10.3389/fnins.2025.1617315

Transposon activity and nucleotide triplet instability: new perspectives on their potential interplay in brain disorders

Provisionally accepted
Giuseppe  PepeGiuseppe PepeMarianna  StortoMarianna StortoAlba  Di PardoAlba Di PardoVittorio  MaglioneVittorio Maglione*
  • Mediterranean Neurological Institute Neuromed (IRCCS), Pozzilli, Italy

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

Genomic instability is a key feature of many neurological disorders, with transposon activation and nucleotide triplet repeat instability playing critical roles. Transposons, which are also referred to as mobile genetic elements, have the potential to destabilize the genome and interfere with gene expression. Conversely, changes in nucleotide triplet sequences, such as expansions or contractions, can lead to the production of abnormal proteins or nonfunctional RNAs. In this perspective, we discussed the intricate relationship between these two forms of genomic instability and their influence on brain disorders. We analyzed the molecular mechanisms that contribute to these phenomena, the shared regulatory systems that govern them, and their role in neurological conditions. Additionally, we provided some insights into the development of potential therapies for brain disorders linked to these genomic alterations.

Keywords: LINEs, SINEs, Transposon activity, Repeat instability, Brain Diseases

Received: 23 Jun 2025; Accepted: 02 Sep 2025.

Copyright: © 2025 Pepe, Storto, Di Pardo and Maglione. 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: Vittorio Maglione, Mediterranean Neurological Institute Neuromed (IRCCS), Pozzilli, Italy

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.