Cystic Fibrosis

Why bad genes don't always lead to bad diseases

That two people with the same disease-causing mutation do not get sick to the same extent has been puzzling scientists for decades. Now Professor Andy Fraser and his team have uncovered a key part of what makes every patient ...

Jul 16, 2015
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Stem cells might heal damaged lungs

Collectively, such diseases of the airways as emphysema, bronchitis, asthma and cystic fibrosis are the second leading cause of death worldwide. More than 35 million Americans alone suffer from chronic respiratory disease. ...

Jul 14, 2015
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Cystic fibrosis (also known as CF or mucoviscidosis) is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across epithelium, leading to thick, viscous secretions.

The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with, though not cured by, antibiotics and other medications. Other symptoms, including sinus infections, poor growth, diarrhea, and infertility affect other parts of the body.

CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally and therefore has autosomal recessive inheritance.

CF is most common among Caucasians; one in 25 people of European descent carries one allele for CF.

The World Health Organization states that "In the European Union 1 in 2000-3000 newborns is found to be affected by CF".

Individuals with cystic fibrosis can be diagnosed before birth by genetic testing, or by a sweat test in early childhood. Ultimately, lung transplantation is often necessary as CF worsens.

This text uses material from Wikipedia licensed under CC BY-SA

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