Cystic fibrosis transmembrane conductance regulator messenger RNA (CFTR mRNA) (CFTR mRNA)

Cystic fibrosis transmembrane conductance regulator (CFTR) messenger RNA is the transcript responsible for the synthesis of the CFTR protein, an essential chloride channel located in the apical membrane of epithelial cells (UniProt P13569). This protein regulates the transport of chloride and bicarbonate ions, which is vital for maintaining the hydration of mucosal surfaces in the lungs and other organs (PubMed: 29346052). In Cystic Fibrosis (CF), mutations in the CFTR gene lead to defective or absent protein, causing the accumulation of thick, sticky mucus that leads to chronic infections and respiratory failure (NIH: Genetics Home Reference). Therapeutic targeting of CFTR mRNA involves mRNA replacement therapy, where synthetic, functional mRNA is delivered to pulmonary epithelial cells to restore protein function (PubMed: 33434110). This mutation-agnostic approach is particularly valuable for patients with nonsense mutations or other rare variants that do not respond to traditional CFTR modulators (Arcturus Therapeutics, 2023). Current clinical candidates like VX-522 and ARCT-032 utilize lipid nanoparticle delivery systems to protect the mRNA and facilitate cellular uptake (Vertex Pharmaceuticals, 2022). Challenges include overcoming the thick mucus barrier in CF lungs and managing potential inflammatory responses to the delivery vehicle.

Other names

CFTR transcriptCystic fibrosis transmembrane conductance regulator mRNAABCC7 mRNACFTR mRNA within pulmonary epithelial cells

mRNA replacement therapy: Delivery of exogenous wild-type mRNA to pulmonary epithelial cells to enable the production of functional CFTR protein.