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Genes behind fatal lung disease identified

 
  March, 29 2007 17:52
your information resource in human molecular genetics
 
     
There is currently no effective treatment for idiopathic pulmonary fibrosis, which causes progressive scarring of the lungs. As many as 20 percent of IPF sufferers are thought to have inherited genetic mistakes that predispose them to the disease, the university said in a release ahead of the study's publication in the New England Journal of Medicine.

A DNA screening of 73 people with inherited IPF found a correlation between disease and mutations in hTR and HTERT that produce telomerase RNA and telomerase reverse transcriptase respectively.

Six probands (8%) had heterozygous mutations in hTERT or hTR; mutant telomerase resulted in short telomeres. Asymptomatic subjects with mutant telomerase also had short telomeres, suggesting that they may be at risk for the disease.

Scientists say the finding may "provide new directions in diagnosis and treatment for families that inherit genes for the disease, as well as for those that develop non-inherited forms of the illness," the release said.


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