Genomic DNA sequences in Dystrophin (DMD) and Cystic fibrosis transmembrane conductance regulator (CFTR) (DMD and CFTR DNA)

The genomic DNA sequences of DMD and CFTR represent two distinct and critical targets in the field of genetic medicine. The DMD gene, the largest in the human genome, encodes the dystrophin protein, which is vital for the structural integrity of skeletal and cardiac muscle by linking the internal cytoskeleton to the extracellular matrix (UniProt P11532). Mutations in DMD lead to Duchenne and Becker muscular dystrophies, characterized by progressive muscle wasting. The CFTR gene encodes an ATP-binding cassette transporter that functions as a chloride and bicarbonate channel in epithelial cells, regulating fluid homeostasis on mucosal surfaces (UniProt P13569). Mutations in CFTR cause cystic fibrosis, a life-threatening condition involving thick mucus buildup in the lungs and pancreas. Both genes are primary targets for innovative therapies, including AAV-delivered gene replacement, CRISPR-based gene editing, and RNA-modulating antisense oligonucleotides (PubMed PMID: 31573550; NIH, 2024).

Other names

DMD geneCFTR geneDystrophin locusABCC7Cystic fibrosis geneDMDCFTR

Therapeutic strategies include gene replacement therapy using viral vectors to deliver functional gene copies, antisense oligonucleotides to induce exon skipping in pre-mRNA, and small-molecule modulators that improve the folding or gating of the resulting protein products (FDA, 2023; NIH, 2024).