Diseases cystic fibrosis

CFTR has a single-channel conductance of about 8 pS. It is present in the apical membranes of many epithelia. Its mutation leads to the potentially lethal disease cystic fibrosis. In addition to acting as a chloride channel, CFTR is also thought to regulate, e.g., the epithelial sodium channel ENaC, a molecularly unknown outwardly-rectifying chloride channel, and possibly also potassium channels and water channels. Some of these potential regulatory processes, however, are controversial. CFTR also acts as a receptor for bacteria. 

In addition to blood, certain types of specimens are submitted to the Pediatric laboratory which would not be commonly seen elsewhere. An example of this is sweat for analysis of chloride. The process of obtaining the sweat by iontophoresis usually falls to the personnel of the Laboratory of Neonatology (17). Stool for analysis of lipids and trypsin is more commonly submitted to the Laboratory of Neonatology than to the laboratory which services the adult population. The reason for this is that one is screening for certain intestinal diseases characteristic of infants and newborns which are rare in adults. Such conditions would be celiac disease, cystic fibrosis and others. 

Rowe SM, Miller SM, Sorscher EJ. Mechanisms of disease cystic fibrosis. N Engl J Med 2005 352 1992-2001. 

Hemophilia A and B Pulmonary diseases Cystic fibrosis Peripheral vascular disease Coronary restenosis Cancer... 

One of the commonest of genetic diseases, cystic fibrosis affects persons all over the world. 

Pulmonary delivery of liposomes has focused on the treatment of asthma, infectious diseases, genetic diseases (cystic fibrosis), and lung injury and lately on gene therapy. 

Sleep disorders associated with other chronic medical conditions, for example, asthma, chronic lung disease, cystic fibrosis, chronic pain, kidney and liver failure, congestive heart failure, gastroesophageal reflux, thyroid disorders, and menopause. 

A variety of membrane-bound proteins are of vital interest to the medical and nutritional ientist, because defects or changes in these proteins can cause such problems as lactose intolerance, cardiovascular disease, cystic fibrosis, and diabetes. Sucrase-isomaltase, an enzyme of the small intestine, is a membrane-bound protein, bound to the plasma membrane of the cnterocyte (gut cell). Part of the production of this enzyme is depicted in Figure 1,26. in Step 1, the polypeptide chain is polymerized on the ribosome (shown in black). In Step 2, part of the amino add chain near the N terminus crosses the membrane of the ER into the lumen but some of the amino acids at the N terminus remain outside. Step 3 shows the protein assuming a three-dimensional shape within the lumen both the C and N... 

Nutrient malabsorption also occurs in the genetic disease cystic fibrosis. This disease arises from a mutation in the chloride ion transporter, and results in pancreatic insufficiency as well a.s respiratory difficulties. Treatment of the malabsorption symptoms of cystic fibrosis involves supplementation with pancreatic enzymes and synthetic water-soluble versions of the fat-soluble vitamins. The labored breathing and respiratory infections due to the disease cannot be treated by dietary intervention. 

Martonen T, Katz I, Cress W. Aerosol deposition as a function of airway disease cystic fibrosis. Pharm Res 1995, 12, 96-102. 

DNA probes are now used routinely to detect the presence of mutant alleles in fetal cells obtained by amniocentesis, as well as in cells removed from affected adults or carriers. Many inherited disorders, such as sickle cell disease, cystic fibrosis, Huntington s disease, Duchenne s muscular dystrophy, and dozens of other Mendelian (single-gene) disorders, can now be diagnosed in fetuses and adults. In addition to inherited disorders, DNA probes are used to detect the presence of active oncogenes or inactive tumor suppressor genes in cancerous tissues removed from patients (Chapter 26). 

CFTR discovered 20 years ago, is a cAMP-activated chloride channel, acting as an ATP-dependent pump with ATPase activity, expressed in epithelia in the lung, intestine, pancreas and other tissues, where it facilitates tran-sepithelial fluid transport. In the intestine, CFTR provides the major route for chloride secretion in certain diarrheas. Mutations in CFTR cause the hereditary disease cystic fibrosis, where chronic lung infection and deterioration in lung function cause early death. 

Recently, Cl" channels have been discovered. These channels have no sequence relationship to the voltage-gated Na, and Ca channels. One such channel is involved in the disease, cystic fibrosis. In this disease, regulation of the channel is defective. The altered function of the channel in epithelia causes elevated levels of sodium and chloride ions in sweat and, through unknown processes, the accumulation of mucus in the respiratory tract and failure of exocrine secretion in glands, such as the pancreas. Blockage of airways leads to chronic lung infections that, with other effects of the Cl" transport deficiency, can be fatal. 

Luminex xMAP Cardiac markers Cancer markers Metabolic markers Neurobiology Cytokines Chemokines Growth factor Gene expression profiling Nuclear receptors HLA testing Infectious disease Cystic fibrosis... 

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