-- Robert Preidt
MONDAY, Aug. 26 (HealthDay News) -- Researchers who identified
105 new genetic mutations that cause cystic fibrosis say their
findings will improve diagnosis and could increase the number of
patients who receive individualized drug treatment.
Cystic fibrosis is a genetic disorder that causes a buildup of
thick mucus in the lungs, resulting in frequent lung infections,
breathing problems and decreased lung function. Eventually, the
repeated infections destroy the lungs.
More than 1,900 mutations had already been identified in the
gene responsible for cystic fibrosis, but it was unclear how many
of them actually contribute to the disease.
In this study, researchers analyzed genetic information from
nearly 40,000 cystic fibrosis patients in order to determine which
of the 1,900 mutations are benign and which are harmful. Their
findings increased the number of mutations known to cause cystic
fibrosis from 22 to 127.
The study was published online Aug. 25 in the journal
Identification of these additional mutations in the cystic
fibrosis transmembrane conductance regulator (CFTR) gene will bring
certainty to families about whether someone has cystic fibrosis or
is a carrier, and will also help efforts to design new drugs that
target specific mutations. There is already one such drug on the
"Since not all mutations cause disease, sequencing the DNA in both copies of your CFTR gene and finding an abnormality in one wouldn't tell us if you are a carrier for [cystic fibrosis] unless we knew if that abnormality causes [cystic fibrosis]," Dr. Garry Cutting, a professor of pediatrics in the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine, said in a Hopkins news release.
"Until this new work, more than a quarter of couples in which both partners were found to carry a CFTR mutation were left wondering if their mutations were going to affect their offspring. Now it's down to 9 percent," he explained.
The U.S. National Heart, Lung, and Blood Institute has more
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