Mutated nucleic acid sequences

Mutated nucleic acid sequences refer to alterations in the genomic DNA or transcribed RNA that lead to the production of dysfunctional proteins or the dysregulation of cellular processes. These mutations, which include point mutations, insertions, deletions, and chromosomal translocations, serve as the underlying cause of numerous genetic disorders and are primary drivers of oncogenesis (National Human Genome Research Institute, 2024). In modern therapeutics, these sequences are targeted directly at the genetic level rather than targeting the resulting protein product. Therapeutic strategies such as antisense oligonucleotides (ASOs), small interfering RNAs (siRNAs), and CRISPR-based gene editing are designed to recognize specific mutated sequences to silence oncogenic expression, correct splicing defects, or permanently repair the genetic code (Nature, 2019). While highly specific, the clinical application of targeting mutated nucleic acids requires sophisticated delivery systems, such as lipid nanoparticles or viral vectors, to ensure the therapeutic reaches the target tissue without degradation (PubMed, 2021). This target entry is considered 'incorrect' or overly broad because it describes a vast category of genetic variations rather than a specific, individual therapeutic target like a single gene or receptor.

Other names

Mutant DNAMutant RNAPathogenic variantsGenomic mutationsTargeted genetic sequencesOncogenic mutations

Mechanism of action includes RNA interference (RNAi) via siRNA, antisense inhibition of translation or splicing modulation via antisense oligonucleotides (ASOs), and direct genomic sequence modification via CRISPR-Cas9 or other gene-editing technologies (Nature Reviews Drug Discovery, 2017; PubMed, 2023).