Disease-associated intracellular RNA biomarker

Disease-associated intracellular RNA biomarkers represent a broad class of ribonucleic acid molecules, including messenger RNA (mRNA) and various non-coding RNAs (ncRNAs) such as microRNA (miRNA), long non-coding RNA (lncRNA), and circular RNA (circRNA), whose expression or sequence is altered in pathological states. These molecules serve as critical regulators of cellular processes, including gene silencing, splicing, and protein translation, and their dysregulation is a hallmark of diseases ranging from oncology to rare genetic disorders. As therapeutic targets, they are addressed using modalities such as antisense oligonucleotides (ASOs), RNA interference (RNAi) therapeutics, and increasingly, small molecules designed to bind complex RNA folds. Targeting these intracellular RNAs allows for the modulation of 'undruggable' proteins by intervening at the transcript level or by correcting aberrant splicing events. However, therapeutic development faces challenges related to precise intracellular delivery, potential off-target effects, and the activation of the innate immune system by exogenous nucleic acids.

Other names

Intracellular RNADisease-associated RNAPathogenic RNA transcriptRNA target

Mechanisms of action for targeting these molecules include RNA interference (RNAi) mediated by the RISC complex, antisense-mediated degradation via RNase H, splicing modulation to include or exclude specific exons, and small molecule-mediated inhibition of RNA-protein interactions or translation.