Cystic fibrosis: Explanations

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.

http://www.enchantedlearning.com/subjects/animals/cell/

How does a protein problem lead to so much trouble?

http://healthylookout.com/?p=1145

On image 1, it's a normal CFTR: the canal is well opened and the mucus can not be accumulated over the membrane.

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.

Co-transporters:

I) Historical:

   In august 1960 in Prague, the Czech Republic Robert K.Crane discovered the mecanism of the sodium-glucose cotransport for the glucose intestinal absorption. It was the most important concerning later the carbohydrates absorption in the 20th century.

II) What are these proteins?

    Co-transporters, or coupled transporters,  are a subcategory of transporters that couple the favorable movement of one molecule with its concentration gradient and unfavorable movement of another molecule against its concentration gradient.

    According to the path of these two elements, we'll talk about symporters (ion and molécule travel the membrane in the same direction) or antiporters (these two chemical species travel the membrane in opposite directions).

http://ressources.unisciel.fr/biocell/chap2/co/module_Chap2_2.html

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Uniporters:

Uniporters are proteins which facilitate in one direction a molecule or an ion through phospholipids membranes such as the plasmic membrane. It's the opposite of the co-transporters (symporter or antiporter).

Source:Unknow

                                                             

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