Potential usages of A-to-I RNA editing patterns as diagnostic biomarkers

Adenosine to inosine (A-to-I) RNA editing is one of the most frequent RNA modifications found in the mammalian transcriptome. Recent studies clearly indicate that RNA editing enzymes, adenosine deaminase acting on RNAs (ADARs), are upregulated in stressed cells and under disease conditions, suggesting that monitoring RNA editing patterns might be useful as diagnostic biomarkers of various diseases. Here, we provide an overview of epitranscriptomics, and focus particularly on the detection and analysis of A-to-I RNA editing using bioinformatic tools in RNA-seq data sets, as well as briefly reviewing the existing evidence about its involvement in disease progressions. Finally, we argue for the detection of RNA editing patterns as part of the routine analysis in RNA-based data sets, with the aim of accelerating the identification of RNA editing targets linked to disease.

Automated summary

Adenosine to inosine (A-to-I) RNA editing is a common RNA modification in mammalian transcriptomes. Upregulated RNA editing enzymes, adenosine deaminase acting on RNAs (ADARs), suggest that monitoring RNA editing patterns could be useful as diagnostic biomarkers for diseases. This article provides an overview of epitranscriptomics and focuses on the detection and analysis of A-to-I RNA editing using bioinformatic tools in RNA-seq data sets, while briefly reviewing its involvement in disease progressions. The authors argue for routine detection of RNA editing patterns in RNA-based data sets to accelerate the identification of disease-related RNA editing targets.