Which gene is affected in Cystic Fibrosis?

Cystic Fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system due to the malfunction of the CFTR gene, which encodes the cystic fibrosis transmembrane conductance regulator protein. This protein plays a crucial role in the regulation of chloride ions across epithelial cell membranes. In individuals with CF, mutations in the CFTR gene lead to the production of a dysfunctional protein, resulting in thick mucus accumulation in various organs, particularly the lungs, which causes respiratory and digestive issues. Understanding the specific gene affected helps in the diagnosis and management of the condition, including targeted therapies aimed at improving the function of the CFTR protein.

The other genes listed do not relate to Cystic Fibrosis. HBA1 and HBA2 are genes that encode for alpha globin chains in hemoglobin, while HBB encodes for the beta globin chain. These genes are involved in hemoglobinopathies such as sickle cell disease and alpha and beta thalassemia, which are distinct genetic disorders from Cystic Fibrosis. Hence, the focus on CFTR is critical for understanding the pathology and potential treatment strategies for Cystic Fibrosis.