Slight CFTR dysfunction

Question

Hello,

Many thanks for your answer concerning the R553x/IVS8-5T-TG12 mutations. [Comment: this refers to the question/answer pair “Atypical/mild cystic fibrosis” submitted in April, 2010.]

Among other things, you told me that one has to reckon with slight CFTR dysfunctions with these mutations.

What exactly does that mean?

Many thanks for your answer.

Kind regards.

Answer

Hello

Prof. Tuemmler already answered your questions about the R553x/IVS8-5T-TG12 mutations in great detail. There is nothing significant to add to that. Please read the answers again thoroughly; this will certainly help answer a lot of further questions you may have. Perhaps you should also talk to a CF doctor and show him Prof. Tuemmler’s answers. Maybe your uncertainties can be clarified this way.

I would nevertheless specifically like to get back to your question about “slight CFTR dysfunctions.” You know by now that CF is caused by mutations (changes) in the “Cystic Fibrosis Transmembrane Conductance Regulator” (CFTR) gene. CFTR forms a cAMP-dependent chloride channel and thus plays an important role in the salt and water transport and therefore in the moistening of the surfaces of many mucous membranes. In CF, the lack of the CFTR function leads to the formation of a viscous secretion with low water content particularly in the respiratory tracts, biliary tract, intestines, genitals, and elsewhere. This leads to a dysfunction of these organs. The severity of the dysfunction is reflected in the severity of the changes it causes.

Kind regards
Dr. Christina Smaczny

09.09.2010