Description of one genetic disease
The cystic fibrosis, also known as mucoviscidosis, is a genetic disease that affects mostly lungs but also the pancreas, liver, and intestine. Cystic fibrosis is due to a mutation of only one gene which is the one who help to produce CFTR (cystic
fibrosis transmembrane conductance regulator), a transmembrane protein that help Cl- and Na+ to pass through the membrane.
Where can we found it?
As we can see on the picture we can find these in the cell membrane, in lysosome and in the cytoplasm, in the early and late endosome.
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| http://www.enchantedlearning.com/subjects/animals/cell/ |
How does a protein problem lead to so much trouble?
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| http://healthylookout.com/?p=1145 |
On image 2, it's a CFTR produced by a mutation: As we can see, the canal is closed and the result of a lack of NaCl in the mucus is a very sticky mucus that cover all the epithelium. Then the accumulation of this mucus causes respirator deficiency and infections.
