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PA-IPF Registry home  

The Daniel and Joan Beren
Pennsylvania Idiopathic Pulmonary Fibrosis
State Registry

A project of the University of Pittsburgh, University of Pennsylvania, Penn State Milton S. Hershey Medical Center, Temple University, Geisinger Medical System

PA-IPF Hotline  1-866-922-4IPF (4473)


Risk factors for IPF
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I'm afraid of death, what can I do?
Will my children get IPF?

Are my children at risk for IPF?

An IPF patient once stated, "If my children can acquire IPF based on my genetic make-up, I want to know." His comment reflects one of the most common concerns of IPF patients and their families.

When loved ones are faced with the reality of disease in their family it is a life-changing experience. You receive support from family and friends. We, the members of PA-IPF, will provide you with the opportunity to gain more knowledge about IPF

Leading research findings are currently showing advances in family genetics. In recent research a rare hereditary disease, dyskeratosis congenita, which is also associated with lung fibrosis, may be the link to a gene mutation responsible for the onset of farnilid idiopathic puirnonary fibrosis (Armanios MY, et d. 2007 & Tsakiri KD, et al. 2007).

Idiopathic Pulmonary Fibrosis (IPF) affects about 100,000-120,000 people in the U.S. IPF is familial in about 2-20% of cases. Gene expression studies of lungs of patients with sporadic or familial forms of IPF suggested that similar genes are activated in the lungs of both patients groups.

Scientists have tried to identify the gene or region in the genome that is responsible for familial idiopathic pulmonary fibrosis, hoping to shed light on what causes the disease. In previous work they found a rare association with mutated surfactant proteins, a molecule important in maintaining the lung ability to expand during breathing. This mutation is very rare and investigators continued to look for other potential genetic changes that cause the disease. Mutations in a gene that encodes an enzyme called telomerase cause a rare hereditary disease, dyskeratosis congenita, which is also associated with lung fibrosis.

Telomerase is an enzyme that corrects the telomere. A telomere is a small segment in the end of the chromosome that becomes shorter after every DNA replication. It serves as the "Biological Clock" of the cell, determining its age. In cells that "live forever" like stem cells or cancer cells an enzyme called telornerase is active and resets the clock by renovating the telomere. The telornerase is also sometimes activated in normal response to injury.

Scientists have looked at the DNA sequence that encodes telomerase and found that it was frequently mutated in patients with familial pulmonary fibrosis. This finding suggests that abnormal cellular aging may be critical in familial idiopathic pulmonary fibrosis. At this stage it is unknown whether similar mutations are associated with the non-familial sporadic form of IPF This finding should enhance the understanding of IPF and potentially in the future allow better diagnosis and treatment.


Armanios MY, Chen JL, CoganJ D, AdlerjK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA, Landsdorp PM, Greider, CW and Loyd, JE (2007 March 29) Telomerase mutations in families with idiopathic pulmonary fibrosis. The New England Journal of Medicine, 356 (13): 1317-1326

Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, Rosenblatt RL, Shay JW and Garcia CK (2007, April 25) Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proceedings of the National Academy of Sciences of Sciences of the United States of America; 104 (18):7552-7557