Researchers at UT Southwestern Medical Center have identified mutations in two genes that cause a fatal lung scarring disease known as familial pulmonary fibrosis.
Researchers also determined that these mutations cause excessive shortening of the ends of chromosomes, known as telomeres. Telomeres are repetitive sequences of DNA that protect the ends of chromosomes from deteriorating. They are sometimes compared to the plastic ends of shoelaces, which protect shoelaces from fraying.
Together, these genes — PARN and RTEL1 — explain about 7% of familial pulmonary fibrosis and strengthen the link between lung fibrosis and telomere dysfunction, according to the study, done in conjunction with the Yale Center for Genome Analysis.
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