Cystic Fibrosis

The uncertain future of genetic testing

AnneMarie Ciccarella, a fast-talking 57-year-old brunette with a more than a hint of a New York accent, thought she knew a lot about breast cancer. Her mother was diagnosed with the disease in 1987, and several other female ...

Jul 18, 2017
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

Brain cells found to control aging

Scientists at Albert Einstein College of Medicine have found that stem cells in the brain's hypothalamus govern how fast aging occurs in the body. The finding, made in mice, could lead to new strategies for warding off age-related ...

Compound shows promise in treating melanoma

While past attempts to treat melanoma failed to meet expectations, an international team of researchers are hopeful that a compound they tested on both mice and on human cells in a petri dish takes a positive step toward ...