Gene Mutations cause of genetic Idiopathic pulmonary fibrosis

Scientists at Johns Hopkins have located the genetic culprits that's the root cause of hereditary form of a fatal lung disease.

Idiopathic pulmonary fibrosis (IPF) affects approximately 50,000 Americans annually, and has been fatal within three years in most of the cases.

Hopkins investigators screened DNA from blood samples of 73 people with inherited Idiopathic pulmonary fibrosis and discovered that six of those patients having Idiopathic pulmonary fibrosis (eight percent) had mutations in two genes that produce an enzyme which helps lengthen the fragile ends of chromosomes.

In the current study, mutation carriers had telomeres about one-third the length of those in family members with no gene mistakes.

The coorelation between the Idiopathic pulmonary fibrosis and the genetic mutation has been identified and clearly recognized.

To determine the link between short telomeres and non-inherited Idiopathic pulmonary fibrosis or IPF, investigators will need to study a larger group of these patients.

If studies reveal a solid link between the mutation and Idiopathic pulmonary fibrosis , it may change the way Idiopathic pulmonary fibrosis is being treated for now.