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Cystic Fibrosis

Research in the area of cystic fibrosis reported from B. Tummler and colleagues

Published in Genetics and Environmental Law Weekly, March 21st, 2009

According to recent research from Hannover, Germany, "The molecular pathology of mutant F508del CFTR is partially corrected in vitro by the secondary amino acid substitution R553Q in the ABC signature motif."

"An individual with the CFTR genotype R553X/F508del-R553Q showed the typical symptoms and electrophysiological anomalies of cystic fibrosis in the airways and intestine. Sweat chloride concentrations were normal early in life, but were later raised into the range that is diagnostic for cystic fibrosis, suggesting that R553Q could temporarily correct the basic defect in sweat glands," wrote B. Tummler and colleagues.

The researchers concluded:...

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