Cystic Fibrosis

How many genes does it take to make a person?

We humans like to think of ourselves as on the top of the heap compared to all the other living things on our planet. Life has evolved over three billion years from simple one-celled creatures through to multicellular plants ...

Oct 19, 2016
popularity1 comments 0

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

Latest Spotlight News

The tale of the bats, dark matter and a plastic surgeon

What happens when a plastic surgeon meets a bat expert zoologist and a paleobiologist? No, it's not a strange Halloween story about spooky bat dinosaurs but rather, a story about a new discovery about bats which may unlock ...

Study links small RNA molecule to pregnancy complication

A family of small RNA molecules affects the development of cells that give rise to the placenta - an organ that transfers oxygen and nutrients from mother to fetus—in ways that could contribute to a serious pregnancy complication, ...