WEDNESDAY, Nov. 19, 2003 (HealthDayNews) -- A genetic variation that may help predict the severity of cystic fibrosis in individual patients has been identified by researchers at Johns Hopkins Medical Institutions.
Cystic fibrosis is an inherited and often fatal lung disease. It stems from mutations in a gene called CFTR. When specific mutations appear in both copies of the gene, a person experiences a buildup of sticky mucus in the lungs. That makes breathing difficult and traps bacteria that can cause serious and deadly infections.
One CFTR mutation, known as 5T, doesn't always cause cystic fibrosis. Even when 5T and one of the traditional mutations that cause cystic fibrosis are present, a person can be free of cystic fibrosis. But there's no reliable way to predict whether the 5T combination will result in disease or not.
The Johns Hopkins researchers uncovered the existence of specific short repeats of particular genetic building blocks in the CFTR gene. They say this repetitious pattern may help predict the severity of cystic fibrosis.
The study was presented at the recent meeting of the American Society for Human Genetics in Los Angeles.
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