Alternate isoform expression

Alternate isoform expression is a fundamental biological process, primarily mediated by alternative mRNA splicing, which allows a single gene to produce multiple distinct protein isoforms (National Human Genome Research Institute, 2023). This mechanism is a key driver of proteomic diversity and is essential for normal cellular function and development; however, its dysregulation is a hallmark of various pathologies, including cancer, where aberrant isoforms can drive oncogenesis and therapeutic resistance (Nature Reviews Cancer, 2013). While 'Alternate Isoform Expression' itself is a biological phenomenon rather than a discrete molecular target like a receptor or enzyme, it represents a critical therapeutic focus. Current pharmacological strategies involve the use of antisense oligonucleotides (ASOs) like Nusinersen or small molecules like Risdiplam to correct splicing defects or modulate the ratio of specific isoforms to treat genetic disorders such as spinal muscular atrophy (Nature Reviews Drug Discovery, 2021). Because this term describes a physiological process or outcome, it is often categorized as a biomarker or a therapeutic mechanism rather than a specific protein target.

Other names

Alternative mRNA splicingDifferential isoform usageSplice variant expressionAlternative splicingIsoform switching

Modulation of pre-mRNA splicing using antisense oligonucleotides (ASOs) or small molecule splice-modifiers to induce exon skipping, exon inclusion, or to inhibit the splicing machinery (e.g., spliceosome inhibitors).