Cystic fibrosis transmembrane conductance regulator (CFTR): beyond cystic fibrosis

Abstract Background The cystic fibrosis transmembrane conductance regulator ( CFTR ) gene has been traditionally linked to (CF) inheritance in an autosomal recessive manner. Advances molecular biology and genetics have expanded our understanding of the its encoding products expressed different tissues. Aim study’s aim consists reviewing pathological CF phenotypes using existing literature. We know that alterations protein’s structure may result phenotypes. Methods Open sources such as PubMed Science Direct databases used for this review. focused selection on articles published within last 15 years. Critical terms related protein used: “CFTR AND cancer,” celiac disease,” pancreatitis,” “children,” “adults,” “genotype,” “phenotype,” “correlation,” “mutation,” “CFTR,” “diseases,” “disorders,” “no fibrosis.” Results analyzed 1,115 abstracts total. Moreover, only 189 were suitable topic. role cancer, gastrointestinal disorders, respiratory diseases, reproductive system, systemic hypertension. Conclusions Mutations are often associated with CF. In review, we highlighted broad spectrum reported gene, which be involved pathogenesis other diseases. importance these new insights relies possibility considering protein/gene a novel therapeutic target CF- CFTR-related