Recommendations for detection, validation, and evaluation of RNA editing events in cardiovascular and neurological/neurodegenerative diseases

Korina Karagianni, Alessia Bibi, Alisia Madé, Shubhra Acharya, Mikko Parkkonen, Teodora Barbalata, Prashant K Srivastava, David de Gonzalo-Calvo, Constanza Emanueli, Fabio Martelli, Yvan Devaux, Dimitra Dafou, A Yaël Nossent*, EU-CardioRNA COST Action CA17129

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

1 Citation (Scopus)

Abstract

RNA editing, a common and potentially highly functional form of RNA modification, encompasses two different RNA modifications, namely adenosine to inosine (A-to-I) and cytidine to uridine (C-to-U) editing. As inosines are interpreted as guanosines by the cellular machinery, both A-to-I and C-to-U editing change the nucleotide sequence of the RNA. Editing events in coding sequences have the potential to change the amino acid sequence of proteins, whereas editing events in noncoding RNAs can, for example, affect microRNA target binding. With advancing RNA sequencing technology, more RNA editing events are being discovered, studied, and reported. However, RNA editing events are still often overlooked or discarded as sequence read quality defects. With this position paper, we aim to provide guidelines and recommendations for the detection, validation, and follow-up experiments to study RNA editing, taking examples from the fields of cardiovascular and brain disease. We discuss all steps, from sample collection, storage, and preparation, to different strategies for RNA sequencing and editing-sensitive data analysis strategies, to validation and follow-up experiments, as well as potential pitfalls and gaps in the available technologies. This paper may be used as an experimental guideline for RNA editing studies in any disease context.

Original languageEnglish
Article number102085
JournalMolecular Therapy - Nucleic Acids
Volume35
Issue number1
DOIs
Publication statusPublished - 12 Mar 2024

Keywords

  • A-to-I editing
  • C-to-U editing
  • cardiovascular disease
  • methodology
  • MT: RNA/DNA editing
  • neurodegenerative disease
  • neurovascular disease
  • RNA editing

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