Scientists at Johns Hopkins have identified the genetic culprits
that trigger a hereditary form of a fatal lung disease. The
findings, published in the March 29, 2007 issue of the New
England Journal of Medicine, may provide new directions in
diagnosis and treatment for families that inherit genes for the
disease, as well as for those that develop non-inherited forms
of the illness. A progressive scarring of the lungs with no
effective treatment, idiopathic pulmonary fibrosis (IPF) affects
approximately 50,000 Americans annually, and like some cancers
often is fatal within three years. As many as 20 percent of IPF
sufferers are thought to have inherited genetic mistakes that
predispose them to the disease; and until now, these gene flaws
remained unknown. To locate the genetic problem, Hopkins
investigators screened DNA from blood samples of 73 people with
inherited IPF and discovered that six of them (eight percent)
had mutations in two genes that produce an enzyme which helps
lengthen the fragile ends of ch