Posted: May 22nd, 2023

Cystic Fibrosis Transmembrane Regular

CF is caused by a gene mutation. The gene that mutates is found on chromosome 7 and it is Cystic Fibrosis Transmembrane Regular (CFTR). It produces the “protein that helps to control the movement of chloride and bicarbonate in and out of cells” (Keyes, Lassiter & Roberts, 2006, p. 1). CFTR is responsible for creating a pore in the cell membranes to create room for the passage of elements. The pore can either restrict or allow elements to pass. However, in a person with CF, the cell pores are blocked and thus chloride and other important ions are not released and this leads to salt imbalance. The imbalance leads to the release of thick mucus that accumulates in the lungs. The CFTR gene can discriminate and block the passage of either sodium or chloride. The degree to which the defective CFTR gene blocks the flow of sodium and chloride determines the severity of the CF (Keyes, Lassiter & Roberts, 2006; Rosaler, 2007).