Cystic Fibrosis

Bacterial genes tell the tale of an outbreak's evolution

Researchers at Harvard Medical School and Children's Hospital Boston have retraced the evolution of an unusual bacterial infection as it spread among cystic fibrosis patients by sequencing scores of samples collected during ...

Nov 13, 2011
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Inactive genes surprisingly common in humans

(Medical Xpress) -- Every person carries on average 100 variants that disable genes - yet very few suffer ill effects, an international team of researchers led by Yale University and Wellcome Trust Sanger ...

Feb 16, 2012
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Can antibiotics cause autoimmunity?

The code for every gene includes a message at the end of it that signals the translation machinery to stop. Some diseases, such as cystic fibrosis and Duchenne muscular dystrophy, can result from mutations that insert this ...

Mar 31, 2014
popularity 3.5 / 5 (2) | comments 1

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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