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

Egyptian Journal of Medical Human Genetics

Maria Papale¹  Federico Mòllica¹  Giuseppe Fabio Parisi¹  Alessandro Giallongo¹  Sara Manti¹  Salvatore Leonardi¹ 

[1] Department of Clinical and Experimental Medicine, University of Catania;

关键词: CFTR;    Cancer;    Gastrointestinal disorders;    Celiac disease;    Autoimmune disease;    COPD;   

DOI  :  10.1186/s43042-022-00308-7

来源: DOAJ

【 摘 要 】

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

【 授权许可】

Unknown