What does the Delta F508 mutation do?

What does the Delta F508 mutation do?

The most common mutation in the gene associated with cystic fibrosis (CF) causes deletion of phenylalanine at residue 508 (delta F508) of the gene product called CFTR. This mutation results in the synthesis of a variant CFTR protein that is defective in its ability to traffic to the plasma membrane.

What is the main cause of cystic fibrosis?

Causes. Cystic fibrosis is an inherited disease caused by mutation in a genes called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene provides instructions for the CFTR protein.

What is Mucoviscidose?

CF is also known as mucoviscidosis: mucus + viscosity = mucoviscidosis. Mucus is a secretion produced by the lining cells of hollow organs (such as the bronchi, the digestive tract, the pancreatic ducts, the bile ducts of the liver). With CF, the mucus is abnormally thick and sticky, “viscous”.

Is cystic fibrosis a disease?

Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body’s organs. The disorder’s most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems.

What is the function of CFTR?

The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes.

What does Delta F508 stand for?

Background and aims: Deletion of the codon for phenylalanine at position 508 (DeltaF508) is the most frequent disease-causing mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Can cystic fibrosis be cured?

Treatments for cystic fibrosis. There’s no cure for cystic fibrosis, but a range of treatments can help control the symptoms, prevent or reduce complications, and make the condition easier to live with.

Is cystic fibrosis fatal?

Cystic fibrosis (CF) is a chronic, progressive, and frequently fatal genetic (inherited) dis ease of the body’s mucus glands. CF pri marily affects the respiratory and digestive systems in children and young adults. The sweat glands and the reproductive system are also usually involved.

Where is cystic fibrosis located?

Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections.

How does a baby get CF?

CF is passed from parents to children through genes. A baby has to inherit a CF gene from both parents to have CF. All babies have a newborn screening test for CF so it can be found and treated early. Treatment can include medicines and chest therapy to help with your baby’s breathing and digestion.

What are CFTR modulators?

Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are a class of drugs that act by improving production, intracellular processing, and/or function of the defective CFTR protein.

What type of protein is CFTR?

The cystic fibrosis transmembrane conductance regulator (CFTR) is responsible for the disease cystic fibrosis (CF). It is a membrane protein belonging to the ABC transporter family functioning as a chloride/anion channel in epithelial cells around the body.