Cf Cystic Fibrosis

1. A defect in the CFTR gene causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat.

Every person inherits two CFTR genes—one from each parent. Children who inherit a faulty CFTR gene from each parent will have CF.

Cystic Fibrosis is an inherited genetic disorder. People are born with cystic fibrosis; they cannot catch it. It affects the lungs and digestive system by clogging them up with thick, sticky mucus. This makes it difficult to breathe and to digest food properly.

Causes of cystic fibrosis 

Cystic fibrosis is a genetic condition caused by a faulty gene (known as the CFTR gene). The CFTR gene normally creates a protein that moves salt and water out of a cell.

If the CFTR gene is defective, it results in a build-up of thick, sticky mucus in the body's tubes and passageways. These blockages damage the lungs, digestive system and other organs, resulting in inflammation (swelling) and, in the lungs, repeated infections.

How the CFTR mutation is passed through families

Genes come in pairs. You inherit one set of genes from your mother and one set from your father.

To develop cystic fibrosis you would have to inherit the faulty gene from both your mother and your father.

2. a defective form of a protein called CFTR (or cystic fibrosis transmembrane conductance regulator)

The CFTR gene belongs to a family of genes called ABC (ATP-binding cassette transporters). It also belongs to a family of genes called ATP (ATPase superfamily).

CFTR is an ABC transporter-class ion channel that codes for a protein that conducts chloride and thiocyanate ions across epithelial cell membranes. The transports sodium and chloride (salt) ions in the body. A defective CFTR gene cannot transport the ions, resulting in the production of thick mucus that builds up and...