DNA Marker of Aging Implicated in Lung Diseases

The protective endcaps of chromosomes that affect how quickly cells age, telomeres are combinations of DNA and proteins that protect the ends of chromosomes and help them remain stable. Telomere shortening is associated with a weakening of structural integrity, and is thought to be a mechanism of aging.  In studying the gene mutations that cause people to have unnaturally short telomeres, Jonathan Alder, from Brigham  Young University (Utah, USA), and colleagues have revealed that those mutations are connected to both pulmonary fibrosis and emphysema.  The researchers found that a fraction of individuals who develop sever emphysema have mutations in one of the genes responsible for maintaining telomeres. This finding builds on previous studies that find that mutations in telomere genes are known to cause pulmonary fibrosis.  The study authors submit that: “Our findings identify germline mutations in telomerase as a Mendelian risk factor for [chronic obstructive pulmonary disease] susceptibility that clusters in autosomal dominant families with telomere-mediated disease including pulmonary fibrosis.”