CFTRgeeni

CFTRgeeni, also called the CFTR gene, encodes the CFTR protein, a chloride and bicarbonate channel of epithelial cells. Located on chromosome 7q31.2, the CFTRgeeni is part of the ATP-binding cassette (ABC) transporter family. The CFTR protein is activated by phosphorylation and uses ATP to transport anions across cell membranes, contributing to the hydration of airway surfaces and the viscosity of mucus. It is expressed in the lung, pancreas, intestine, sweat glands, and other tissues, where it helps regulate fluid and electrolyte balance.

Mutations in the CFTRgeeni cause cystic fibrosis and related disorders. The disease is inherited in an autosomal recessive pattern. More than 2,000 variants have been described; F508del is the most common, followed by others such as G542X, G551D, and N1303K. Variants are categorized into functional classes affecting production, processing, gating, or conductance of the CFTR channel. The specific mutation profile guides prognosis and therapy, and some mutations result in milder disease or atypical presentations.

Diagnosis typically involves genetic testing for CFTRgeeni mutations, complemented by a sweat chloride test when cystic fibrosis is suspected. Newborn screening programs may test for CFTRgeeni-related indicators, enabling earlier diagnosis and care.

Treatment includes airway clearance and nutritional support, with mutation-specific CFTR modulators that improve CFTR function. Examples include ivacaftor for gating mutations, and combinations such as lumacaftor/ivacaftor, tezacaftor/ivacaftor, and the triple therapy elexacaftor/tezacaftor/ivacaftor, which are effective for many common mutations. Research continues on gene therapy and genome editing approaches to address CFTRgeeni defects at the source.

Historically, the CFTRgeeni was linked to cystic fibrosis in the late 1980s with the identification of the gene, shaping diagnostic and therapeutic advances and improving outcomes for many patients.