What is cystic fibrosis?

Deficiency of the CFTR gene causes cystic fibrosis (CF). Proteins produced by this gene control the movement of salt and water in and out of cells of the body. In people with CF, genes produce less effective proteins. This may sweat very salty with sticky mucilage

Studies have shown that CFTR protein also affects the body in other ways. This may be helpful in explaining other symptoms and complications of CF

More than 1000 known defects affect the CFTR gene. The type of flaw that you or your child may have has an impact on the severity of CF. Other genes may also play a role in disease severity

This condition is inherited in autosomal recessive pattern. In other words, there is a mutation in the gene copy of each cell. Although parents of autosomal recessive disease individuals each have copies of mutated genes, they usually do not show signs or symptoms of the disease

Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides an illustration of the preparation channels called negatively charged particles of chloride ions for input and output cells. Chloride is a component of sodium chloride, it is a common salt in sweat. Chloride also plays an important role in cells; for example, chloride ion flow helps to control the movement of moisture within the tissue.

Mutations in the CFTR gene disrupt the chloride channel function and prevent them from regulating the chloride ion and water flow across the cell membrane. As a result, cells placed in the lungs, pancreas and other organ pathways produce abnormally rich, viscous mucus. This mucous plugs the respiratory tract and various catheters and causes signs and symptoms of cystic fibrosis. Other genetic and environmental factors can affect the severity of the condition. For example, gene mutations other than CFTR may help explain why some people with cystic fibrosis are more severely affected than others. However, the majority of these genetic changes have not yet been determined

Everyone inherits two CFTR genes - one for each parent. Children with genetic CFTR genetic errors from each parent will have CF

Children inheriting defective CFTR gene and normal CFTR gene are "CF carriers". CF carriers usually have no CF symptoms and live a normal life. But they can pass the wrong CFTR gene to their children.

The figure below shows how two parents as CF carriers pass the wrong CFTR gene to the child.

This figure shows how the CFTR gene is inherited. One person inherits two copies of the CFTR gene - one for each parent. If each parent has a normal CFTR gene and an incorrect CFTR gene, each child has 25% possibility of inheriting two normal genes, the probability of succeeding normal genes and defective genes is 50% , And may be 25% Genetic two defective genes

Cystic fibrosis is caused by so-called "cystic fibrosis transmembrane conductance regulatory factor" genes or defects in the CFTR gene. This gene controls the movement of water and salt in and out of body cells. Mucus is more viscous than actual viscosity due to sudden mutation or change of CFTR gene. This abnormal mucus accumulates in various organs throughout the body. The type of defect is related to the severity of cystic fibrosis. Damaged genes are handed out from parents to children. In order to develop cystic fibrosis, a child must inherit a copy of the gene from each parent. If they only inherit copies of that gene, they will not get sick. However, they will become carriers of defective genes, which means that they can pass genes to their own children.

Cystic fibrosis is an autosomal recessive disorder - that is, two defective genes (one for each parent) are needed to develop the disease. The gene thought to cause cystic fibrosis is called cystic fibrosis transmembrane conductance regulator or CFTR. This gene is on chromosome 7. The severity and extent of this disease vary greatly among patients with cystic fibrosis. Typically, this condition results in chloride transport defects through epithelial cells and an increase in the viscosity of bodily secretions, particularly from the respiratory tract (ie, lungs, throat) and pancreas. As a result, the patient is prone to pancreatic dysfunction and recurrent thoracic infection