What is the alteration to the generic code that causes Cystic Fibrosis? - causes of fibrosis
Cystic fibrosis is an inherited disorder of the exocrine glands, primarily affects the gastrointestinal tract and intestinal tract. This leads to chronic lung disease, exocrine pancreatic insufficiency, the hepato-biliary disease, sweat and electrolyte balance unusually high. The diagnosis is born through the sweat test or identification of 2 CF mutations in patients with typical symptoms or a positive test result for a new screen. Treatment is symptomatic with aggressive multi-disciplinary.
FC made by an autosomal recessive, about 3% of whites. The gene was located on the long arm of chromosome 7th Encoding a protein associated with the membrane called the cystic fibrosis transmembrane (CFTR). The most common mutation of the gene, delta F508, comes in about 70% of CF alleles;> 1500 less common CFTR mutations have been identified. CFTR seems to be part of a camp regulated Cl-channel regulation and the transport of NaCl in epithelial membranes. A number of additional features that are considered probable. The disease occurs only in homozygotes. Heterozygotes subtle changes in May to show the epithelial electrolyte transport, but are clinically healthy.
The following organizations are good sources of information about cystic fibrosis:
* Cystic Fibrosis Foundation - www.cff.org
* Cystic Fibrosis Research, Inc. (CFRI) - www.cfri.org
* March of Dimes - www.marchofdimes.com
Friday, January 8, 2010
Causes Of Fibrosis What Is The Alteration To The Generic Code That Causes Cystic Fibrosis?
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2 comments:
a lot! There are a number of different mutations that have assigned in the CFTR gene. CFTR transmembrane cystic fibrosis, a chloride transporter in a number of organs such as lung, mouth (saliva), liver, pancreas and intestine. the chloride transporter is super important in creating a gradient of chloride ions, the secretion of fluid in the body, which I mentioned just relieved. The most common mutation is Delta-508 mutation is a deletion in the DNA, the protein from the deletion of an amino acid phenylalanine in the CFTR. Structure of the protein altered by the loss of phenylalanine residue causes CFTR to a goal for the rapid degradation leading to a deficit of chloride channel function in the institutions that I mentioned. Other mutations exist, but the frequency varies. New research to try to prevent the degradation of CFTR principles, because, even if structurally flawed, you have a small role, although the agency recognizes as outliers.
No idea what causes this code is only general cystic fibrosis a change in the genetic code, which has a channel to cAMP-mediated chloride-called cystic fibrosis transmembrane conductance, or CFTR. Disorders that cause abnormal transport of chloride ions through the cell and leaves secrete fluids with higher viscosity than they normally do. Causes a wide spectrum of problems, including lung, pancreas, gallbladder, etc.
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