| MadSci Network: Cell Biology |
Yes, diseases can result when cell transport systems don't function properly. Some diseases occur from defects in ion channels. Examples of ion channel diseases are: cystic fibrosis, long QT syndrome, and Pendred syndrome. These three diseases are hereditary. Cystic fibrosis patients have two defective copies of the CFTR (cystic fibrosis transmembrane regulator) gene. The disease is caused by the defective chloride ion channels which are coded by the CFTR gene. The chloride ion channels are located on the surface of epithelial cells that line various organs such as the lungs, pancreas, and sweat glands. You can check out the websites listed below for more information on cystic fibrosis, long QT syndrome and Pendred syndrome. I have only mentioned diseases which are caused by defective ion channels. Other types of cell transport proteins are "ATP-powered pumps" and "transporters". I'm guessing that diseases might also result from defective ATP-powered pumps and transporters. Ion channels, ATP-powered pumps, and transporters mostly transport substances into and/or out of a cell. Another type of transport, known as intracellular transport or trafficking, occurs within a cell. No hereditary diseases are known that result from mutations in essential machinery required for intracellular transport. However, there are some autoimmune diseases that affect intracellular transport. The effects on intracellular transport probably cause some of the symptoms of the disease. http://www.whatislife.com/reader2/chapter_summary.htm#8 Cystic fibrosis: http://www.ncbi.nlm.nih.gov/disease/CF.html Lodish et al. Molecular Cell Biology. New York: Scientific American Books, 1995, pg. 651-652. Long QT syndrome: http://www.ncbi.nlm.nih.gov/disease/LQT.html Pendred syndrome: http://www.ncbi.nlm.nih.gov/disease/Pendred.html Autoimmune diseases that affect intracellular transport: http://journals.munksgaard.dk/trafficf.nsf/8dc7d79e81183340c1256841 0053534c/c9dbf693d695d23fc125698800564a85?OpenDocument
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