mRNA Isoforms and Variants in Health and Disease

Cellular gene expression varies in different physiological or pathological conditions. Conventional gene expression analysis assumes that each gene produces a single mRNA, which is not accurate. On average, genes express more than three mRNA isoforms. A particular cell type expresses different mRNA isoforms from a specific gene depending on its developmental or differentiation state. Different isoforms encode distinct proteins or noncoding regulatory RNAs, each with its own unique functions. Pathological states also alter the expression of transcript variants, which can either cause a disease or facilitate recovery. Still, the detection of mRNA isoforms or variants is not preferred to avoid complex analyses. As a result, gene expression studies often fail to identify the actual mRNA isoforms or variants associated with pathophysiology. In this article, we summarize the data on mRNA isoforms and disease-associated variants identified in various physiological and pathological conditions. These findings emphasize the importance of detecting mRNA isoforms for a better understanding of physiological or pathological conditions.