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Research project yields better understanding of the defective protein that causes cystic fibrosis
Date:12/18/2009

A team of researchers studying the protein that, when defective or absent, causes cystic fibrosis (CF) has made an important discovery about how that protein is normally controlled and under what circumstances it might go awry.

"Understanding the regulation of salt transport in normal cells is critical for the development of new therapies for diseases, like CF, that disrupt salt movements across cell borders," said Jeng-Haur Chen, a postdoctoral researcher at the University of Iowa Carver College of Medicine and the lead author on a paper to be published in the Dec. 18 issue of the Journal of Biological Chemistry.

Cystic fibrosis is an inherited chronic disease that affects many organs, particularly the lungs and digestive system. CF patients carry a defective gene that disables or destroys its protein product, which normally regulates the transport of salt across cell borders. As a result, the body produces thick mucus that blocks its ducts and tubes.

Blockage of air passageways causes chronic cough and lung infection; blockage of the pancreas prevents enzyme delivery to the intestine to break down food; and blockage in the intestine prevents food absorption.

About 70,000 people worldwide have the disease, the majority of whom are children and young adults.

The defective gene responsible for CF and its protein product, called cystic fibrosis transmembrane conductance regulator, or CFTR, were discovered only in 1989; but, thanks to early-detection techniques and improved therapies, the survival of CF patients has improved significantly over the past 40 years. Chen stressed that, despite big improvements, existing therapies for CF only ease symptoms by, for example, staving off lung infections with antibiotics, loosening mucus through chest physiotherapy and aiding in digestion with enzyme supplements.

Developing a true cure, he said, requires two things: first, when it is missing, delivering CFTR
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Contact: Angela Hopp
ahopp@asbmb.org
301-634-7389
American Society for Biochemistry and Molecular Biology
Source:Eurekalert  

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