A cystic fibrosis mutation associated with mild lung disease

Article Abstract:

Patients with cystic fibrosis caused by the A455E mutation appear to have milder lung disease and other complications than patients with disease caused by other gene mutations. Cystic fibrosis is inherited genetic disorder outwardly characterized by excess mucus in the lungs, poor function of the pancreas and high concentrations of chloride in the sweat. Researchers matched and compared 33 cystic fibrosis patients with the A455E mutation to 33 patients with cystic fibrosis caused by another gene mutation. Although they were diagnosed later, patients with the A455E mutation had significantly better lung function than the comparison patients. Only 21% (7) had poor pancreatic function while 94% (31) of the matched patients did. In addition, fewer patients with the A455E mutation had bacterial infections and none developed diabetes.

Health aspects, Causes of, Lung diseases, Human chromosome abnormalities

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Ion channels - basic science and clinical disease

Article Abstract:

Defects in ion channels are responsible for several genetic disorders. Ion channels are proteins in the cell membrane that pump ions such as calcium, chloride, sodium and potassium in and out of the cell. A defect in chloride channels causes cystic fibrosis. Defects in sodium and potassium channels can cause the long QT syndrome and other types of arrhythmias. Defects in calcium channels cause paralytic conditions such as hypokalemic periodic paralysis. Some drugs target ion channels and these include calcium channel blockers and most antiarrhythmia drugs.

Physiological aspects, Ion channels, Arrhythmia

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Genomics as a probe for disease biology

Article Abstract:

The link between gene mutations and specific diseases is reviewed. Topics include hemophilia A, muscular dystrophy, cystic fibrosis, and asthma. Many common diseases such as cancer and heart disease also have a genetic component. Genes can also affect drug metabolism.

Asthma, Genomics, Muscular dystrophy

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