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The Genetics of Cystic Fibrosis

The Genetics of Cystic Fibrosis

Genetic testing for Cystic Fibrosis can make the difference

What is Cystic Fibrosis

Cystic Fibrosis is a genetic disease that mainly affects the lungs and digestive system, but it can result in fatal complications such as liver disease and diabetes. The defective gene responsible for Cystic Fibrosis leads to the creation of thicker, stickier mucus than is usual which is difficult to cough out of the lungs. This can make breathing difficult and lead to severe lung infections, it can interfere with pancreatic function resulting in digestive problems, potentially leading to malnutrition. This thickening of mucus can also cause male infertility by blocking the vas deferens, or the tube that carries the sperm from the testes to the urethra.

Symptoms of Cystic Fibrosis

Some symptoms are more common than others, but in general they are:

  • salty-tasting skin
  • nasal polyps
  • shortness of breath
  • poor weight gain 
  • persistent coughing
  • bulky stools

Cystic Fibrosis’s obstruction of the lungs increases the risk of lung infections such as bronchitis and pneumonia, as it creates optimal conditions for the growth of pathogens. Obstruction in the pancreas can lead to malnutrition and poor growth.

Is Cystic Fibrosis genetic?

Mutations in the CFTR gene cause cystic fibrosis, which provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride, a component of sodium chloride, has important functions in cells such as the flow of chloride ions that help control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus.

Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes and the result is that cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is unusually thick and sticky. This mucus clogs the airways and various ducts, causing the characteristic signs and symptoms of cystic fibrosis. 

Other genetic and environmental factors likely influence the severity of the condition. For example, mutations in genes other than CFTR might help explain why some people with cystic fibrosis are more severely affected than others.

Treatments for Cystic Fibrosis

Currently there is no cure for Cystic Fibrosis but some treatments can manage the symptoms of the disease. Symptoms can vary and treatment plans will be individualized. 

  • Airway clearance is essential for people with Cystic Fibrosis to get rid of mucus from their lungs to allow clear breathing and minimize lung infections. Even the way the patient sits, the position he/she lies in can help to free up mucus. Inhaled medication is effective at reaching the airways and commonly used and they can thin mucus, kill bacteria, and mobilize mucus to improve airway clearance. Antibiotics are an important part of regular care and other drugs, such as ibuprofen and azithromycin, have been found to preserve and improve lung function. 
  • Other treatments: there are alternative methods of managing Cystic Fibrosis that do not involve the airways, such as implanted devices to allow long-term access to the bloodstream for the frequent and regular administration of drugs.

Advantages of getting the WGS for Cystic Fibrosis

  • It provides insight into the bigger picture. 
    Genetic testing will identify mutations and defects that cause insidious injuries not easily seen by other test techniques. Identifying whether you carry a genetic mutation your genetic mutation can help you determine if you are eligible to enroll in certain clinical trials, the correct one for you. 

  • Individualized treatment  
    For individualized treatments. People with a specific genetic mutation will produce better responses and more effective therapies.

  • For your family 
    It offers you the chance to enlighten your family members of the potential predisposition: through precise genetic testing results; you can get a glimpse of the probability of a family member getting a given gene-linked disorder.

  • For the entire community
    Understanding the connection between Cystic Fibrosis and genetics can help us understand how the disease develops and ultimately how it can be treated or cured. Dante Labs Whole Genome Sequencing Test allows to map the entire genome

Cystic Fibrosis is thought to result from the effects of multiple genes as well as environmental risk factors. A combination of multiple factors is a key.
Whole Genome Sequencing allows for quantitative polygenic risk score assessment.
As Science advances, data can shed new lights on new parts of the genome.

 

Click here to learn more about Dante Labs DNA Tests and discover our Cystic Fibrosis report here.