Cystic Fibrosis is Written in Our Genes

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Link between CFTR and airway smooth muscle anomalies

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Cystic Fibrosis (CF) is a chronic disease that affects the secretory glands, which are responsible for producing mucus and sweat. In these patients the mucus ends up accumulating in the lungs and airways, causing a blockage and preventing patients from properly breathing, as well as promoting the growth of bacteria and the development of infections.

CF is known to be an inherited disease related to a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Everyone inherits one CFTR gene from each parent and when there is one faulty CFTR gene, the person is known as CF carrier, which usually does not has symptoms but can be transmitted to children. When two faulty CFTR genes are inherited, the person develops the disease. Note: It is estimated that more than 10 million people carry the faulty CFTR gene in the USA alone according to the National Institutes of Health (NIH).

Even though the cause for cystic fibrosis is known, there are over a thousand defects that can affect the CFTR gene. These defects impacts the severity of the disease and the total amount of defects is not known. In addition, other genes also impact the severity of cystic fibrosis. Therefore, the diagnosis and treatment of cystic fibrosis is not easy and there is currently no cure for it. Research has also demonstrated that the defective CFTR protein may affect other parts of the body, which can explain additional CF symptoms and complications.

Anyone can born with cystic fibrosis, regardless of gender, racial or ethnic groups, as long as they have two faulty CFTR genes.

Even though the disease can affect people of different gender, racial or ethnic groups there are two factors strongly linked to the disease: family history and race. Being an inherited disease means it runs in the family and having a family member with cystic fibrosis increases the risk. Similarly, people of any race can be affected, but it is particularly common among Caucasians of Northern European descent and among Latinos and American Indians, especially the Pueblo of Zuni.

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Note from the social media team: “Thanks to the community here at CF News Today and their valuable suggestions, we have made some changes to make sure our information about the disease is complete and accurate. Thank you to all who commented!”

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