CFTRAktivität

CFTRAktivität refers to the functional activity of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, a chloride ion channel expressed in the epithelial cells of the lung, pancreas, gastrointestinal tract, and reproductive system. The CFTR protein is encoded by the CFTR gene located on chromosome 7. In healthy individuals, CFTR regulates the transport of chloride and bicarbonate ions across cell membranes, which in turn controls the hydration and viscosity of mucus secretions.

The term CFTRAktivität is commonly used in biomedical research and clinical diagnostics to describe the efficacy of CFTR’s ion transport function. Alterations in CFTRAktivität are the direct cause of cystic fibrosis (CF), an autosomal recessive disorder characterized by thick, sticky mucus that impairs lung function and causes recurrent respiratory infections, pancreatic insufficiency, and fertility issues. Mutations in the CFTR gene—over 2000 have been identified—lead to a spectrum of functional impairments, ranging from complete loss of channel function to subtle gating defects that partially reduce CFTRAktivität.

Measuring CFTRAktivität involves multiple assay techniques. In vitro electrophysiological approaches, such as patch-clamp recordings on cultured epithelial cells, directly quantify chloride currents. Fluorescent indicators (e.g., SPQ or MQAE) enable high-throughput screening of CFTR function in cell lines or organoids. In vivo, nasal potential difference (NPD) tests and sweat chloride measurements provide indirect assessments of CFTR-mediated ion transport. Recently, whole-genome CRISPR screens and patient-derived induced pluripotent stem cell (iPSC) models have facilitated the identification of genetic modifiers that influence CFTRAktivität.

Therapeutic strategies aim to restore or enhance CFTRAktivität. Small-molecule correctors promote proper folding and trafficking of mutated CFTR, while potentiators increase channel open probability. Gene therapy and mRNA-based interventions are advancing toward permanent correction of CFTRAktivität deficiencies. The continuous refinement of CFTRAktivitäts assays underpins precision medicine efforts, enabling clinicians to tailor treatment regimens based on individual functional profiles of the CFTR protein.