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

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.

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Publication Details

Journal
Frontiers in Neuroscience
Published
2025-09-16
DOI
https://doi.org/10.3389/fnins.2025.1617315
Primary Topic
RNA and protein synthesis mechanisms
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Vittorio Maglione, Giuseppe Pepe, Marianna Storto, Alba Di Pardo
Frontiers in Neuroscience
RNA and protein synthesis mechanisms
article

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

Vittorio Maglione, Giuseppe Pepe, Marianna Storto, Alba Di Pardo
article en

Abstract

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.

Frontiers in NeuroscienceVol. 19
Istituto Neurologico Mediterraneo (IT)
Ministero della Salute
Openalex Percentile: Top 78%
RNA and protein synthesis mechanisms
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Transposon activity and nucleotide triplet instability: new perspectives on their potential interplay in brain disorders — Vittorio Maglione, Giuseppe Pepe, et al. · Frontiers in Neuroscience (2025) | TGRS Research Map | TGRS