Medical research

Muscle health depends on sugar superstructure

For many inherited diseases, such as cystic fibrosis or Huntington disease, the disease-causing genetic mutation damages or removes a protein that has an essential role in the body. This protein defect is the root cause of ...

Genetics

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 ...

Diseases, Conditions, Syndromes

Zinc discovery holds promise for people with cystic fibrosis

University of Queensland researchers have identified an opportunity to reduce infections in people living with cystic fibrosis (CF). Professor Matt Sweet, Dr. Kaustav Das Gupta and Dr. James Curson from UQ's Institute for ...

Health informatics

Two-channel sensor measures biomarker concentration in sweat

Sensors applied to the skin hold promise for a non-invasive and low-cost method of identifying key biomarkers in sweat, which could help clinicians make earlier and more accurate diagnoses. Up until now, however, sensors ...

Diseases, Conditions, Syndromes

Understanding how Aspergillus fumigatus shapes the lungs

Aspergillus fumigatus strains that infect humans have a significantly altered metabolism compared to other strains in the environment. At the same time, infection with the fungus leads to an apparent change in the human lung ...

Biomedical technology

Breakthrough for sweat analysis: 3D-printed wearable sensor

Sweat is more than just a sign of a good workout. It holds vital information about our health, providing clues to dehydration, fatigue, blood sugar levels and even serious conditions such as cystic fibrosis, diabetes and ...

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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.

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