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Mutant Telomerase Present in Some Pulmonary Fibrosis

Study finds that 8 percent of probands have heterozygous mutations, leading to short telomeres

WEDNESDAY, March 28 (HealthDay News) -- Some families with idiopathic pulmonary fibrosis have mutations in telomerase components and short telomeres, researchers report in the March 29 issue of the New England Journal of Medicine.

Mary Y. Armanios, M.D., from the Johns Hopkins University School of Medicine in Baltimore, Md., and colleagues screened 73 probands with idiopathic pulmonary fibrosis for mutations in human telomerase reverse transcriptase and human telomerase RNA.

The researchers found that six probands (8 percent) had heterozygous mutations in either telomerase component, resulting in short telomeres. Short telomeres were also found in asymptomatic individuals with mutant telomerase. Dyskeratosis congenita, a hereditary disorder also caused by mutations in the same two telomerase components, was not observed in five of the six affected families.

"Mutations in the genes encoding telomerase components can appear as familial idiopathic pulmonary fibrosis," the authors conclude. "Our findings support the idea that pathways leading to telomere shortening are involved in the pathogenesis of this disease."

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