Cystic fibrosis gene typo is a dou... (mber of scientists have hypothesized tha...)

Cystic fibrosis gene typo is a double whammy

Date:11/12/2010

mber of scientists have hypothesized that CFTR also controls the movement of other ions, such as through the epithelial sodium channel or ENaC.

This channel has been shown to be overactive in transporting sodium ions in the airways of cystic fibrosis patients, so Gentzsch and her colleagues set out to determine why. First, they looked at the effects of the CFTR gene on the sodium channel in xenopus oocytes, commonly known as frog eggs. They found that when the CFTR gene was intact, the sodium channel was kept in check.

The researchers followed up with a number of biochemical and electrophysiological experiments and showed that the chloride channel and the sodium channels interact. Gentzsch and her colleagues also confirmed their results in human primary airway epithelial cells from healthy volunteers and patients with cystic fibrosis, showing that the sodium channel was in fact more active when there was no functional CFTR.

Now that they know that the chloride channel can actually influence the function of the sodium channel, Gentzsch is trying to find out how.

"We don't know if it is doing this by basically acting like a roadblock, physically interfering with the proteases that activate ENaC, or if it is doing it by some indirect means," said Gentzsch. "That is what we are investigating at the moment, so there are a lot of more questions to be answered."

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Contact: Les Lang
llang@med.unc.edu
919-966-9366
University of North Carolina School of Medicine
Source:Eurekalert

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