In Cystic Fibrosis a Change in a Single Gene Causes the Protien Called CFTR To?
Monday, March 7th, 2011 at
5:36 am
A question from C. Wright =P: in cystic fibrosis a change in a single gene causes the protien called CFTR to?
a. become less soluble
b. fold improperly
c. destroy the cell membrane
d. transport the sodium ions instead of chloride ions
Selected answer:
Answer by Tom H
C
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Tagged with: called • causes • CFTR • change • cystic • fibrosis • gene • protien • single
Filed under: Cystic Fibrosis
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The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. The channel transports negatively charged particles called chloride ions into and out of cells. The transport of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. Mucus is a slippery substance that lubricates and protects the lining of the airways, digestive system, reproductive system, and other organs and tissues.
More than 1,000 mutations in the CFTR gene have been identified in people with cystic fibrosis. Most of these mutations change single protein building blocks (amino acids) in the CFTR protein or delete a small amount of DNA from the CFTR gene. The most common mutation, called delta F508, is a deletion of one amino acid at position 508 in the CFTR protein. The resulting abnormal channel breaks down shortly after it is made, so it never reaches the cell membrane to transport chloride ions.
All of these changes prevent the channel from functioning properly, which impairs the transport of chloride ions and the movement of water into and out of cells. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is abnormally thick and sticky. The abnormal mucus obstructs the airways and glands, leading to the characteristic signs and symptoms of cystic fibrosis.
a. become less soluble