Research ArticlePulmonary fibrosis

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis–emphysema

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Science Translational Medicine  10 Aug 2016:
Vol. 8, Issue 351, pp. 351ra107
DOI: 10.1126/scitranslmed.aaf7837

Tidy telomeres make for healthier lungs

Telomeres are the protective caps that prevent the ends of chromosomes from unraveling. People carrying mutations in the protein or RNA component of telomerase, the enzyme that makes telomeres have short telomeres and a serious and often fatal lung disease—pulmonary fibrosis. Now, Stanley et al. find in several patients that other mutations, specifically those that interfere with RNA biogenesis, can also cause both short telomeres and lung disease. This work expands our understanding of how telomeres are maintained and their role in human disease.

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