Drug Discovery Opinion

Cystic fibrosis (CF) is a hereditary disease characterised by the production of thick sticky mucus which results in frequent lung infections. CF is caused by any one of a number of mutations in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) which encodes a protein that transports chloride ions across cell membranes. In about 10% of patients worldwide, and more than 50% of patients in Israel, CF is caused by nonsense mutations in the messenger RNA for CFTR. Premature stop codons prevent production of functional full-length protein: patients with nonsense-mutation CF produce very little functional CFTR and often have a severe form of CF.

New Phase II results published in The Lancet show that an orally bioavailable small molecule demonstrates activity in nonsense-mutation CF. PTC124 was designed to induce ribosomes to selectively read through premature stop codons to produce functional CFTR. The data show that treatment with PTC124 results in statistically significant improvements in the chloride channel function of patients.

Nonsense mutations account for a significant number of cases of most inherited diseases and PTC124 may have the potential to treat diseases other than CF.

Bookmark It

Hide Sites

Related posts:

1. Antioxidant Role for Thiocyanate: Implications for Cystic Fibrosis Treatment Cystic Fibrosis (CF) is an autosomal recessive genetic disorder affecting the secretory glands, resulting from mutations in the CF transmembrane...
2. A Rebalancing Approach to Cystic Fibrosis Cystic fibrosis is an inherited disease that affects about 70,000 children and adults worldwide. The condition is caused by a...
3. New Approach to Cystic Fibrosis Cystic fibrosis (CF) results from a genetic defect in the cystic fibrosis transmembrane conductance regulator (CFTR) that results in impaired...
4. P2X7 Antagonist Improves Recovery after Spinal Injury Acute crush injury to the spinal cord is immediately followed by secondary tissue damage, linked to massive release of ATP...
5. Hayfever Drug Shows Promise for Treatment of Alzheimer’s Disease A study published in the July 18th issue of The Lancet shows that a drug once used in Russia to...

Related posts brought to you by Yet Another Related Posts Plugin.

 Email This Post

This entry was posted on Wednesday, August 27th, 2008 at 8:49 am and is filed under News. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.