New genetic discovery in Pulmonary Fibrosis

A new discovery in a deadly lung disease may change the direction of research while uncovering increased risk for many patients and families.  The Coalition for Pulmonary Fibrosis (CPF) and the Pulmonary Fibrosis Foundation (PFF) applaud the efforts of scientists that led to the discovery of a genetic variation associated with the MUC5B gene which may increase the risk of developing Pulmonary Fibrosis (PF). The two patient organizations partner with National Jewish Health (NJH), which led the team of researchers in the study, on a genetic counseling line that provides medical information and support to patients and families.

Results of the MUC5B study are published in the April 21, 2011 issue of the New England Journal of Medicine.  

Pulmonary Fibrosis (PF) is a devastating lung disease with no FDA approved treatment and no cure and scientists have worked for many years with more questions than answers in the quest to understand its cause.

Researchers found in study patients with the idiopathic form of the disease (idiopathic pulmonary fibrosis or IPF), the MUC5B genetic variant was present in 67 percent of patients, and in 59 percent of patients with a known familial origin to the disease (Familial Pulmonary Fibrosis or FPF) as well as in 19 percent of healthy controls.

The study findings regarding MUC5B and its role may alter the course of research into PF by focusing attention to mucus production in the lungs as well as the space around the air sacs in the lungs.  

Scientists also found that carrying one copy of the gene increases risk for pulmonary fibrosis 6-9 times and carrying two copies of the variation increases risk by 20-22 times.

"We are excited about these important new findings as they will guide future investigations in new directions and more precisely identify patients at risk for developing this devastating disease" said Gregory Cosgrove, M.D., Director of the Interstitial Lung Disease Program at National Jewish Health.

"Members of families like mine with Familial Pulmonary Fibrosis know we're at risk for the disease.    This news demonstrates that our relative risk is dramatically higher," said Deirdre Roney, a member of the CPF board of directors who has lost eight members of her family to PF.  "On the other hand, I am excited at learning the results of this important new finding in the genetics of Pulmonary Fibrosis.   When you see a whole generation of your family perish from a disease, as I have, and you see that future facing all of your relatives, you desperately hope that discoveries around genetics will be found.  Once found, the next hope is that gene therapy will be the family's salvation.  My family is deeply grateful to the scientists whose commitment has led to the success of the MUC5B research."

The MUC5B gene is an important finding for all patients with PF, not just people at risk for the genetic version of the disease.  The CPF ( and the PFF ( partner with National Jewish Health to provide a toll-free PF counseling line.  To find out more and to ask questions, please contact the National Jewish Health Genetic Counseling Line at 1-800-423-8891, ext. 1097.

"This is a significant genetic finding in pulmonary fibrosis, one that may be used in the future as a tool to identify individuals at risk, used for earlier detection and more predictable prognosis.  This finding increases the genetic knowledge for pulmonary fibrosis that physicians and researchers can utilize to develop new tests and target for therapies" said Janet Talbert, MS, CGC Director or the Familial Pulmonary Fibrosis Genetic Counseling Program at National Jewish Health.


Coalition for Pulmonary Fibrosis


  1. Rhonda Rhonda United States says:

    We just lost my  mother to pulmonary fibrosis and it is absolutely a horrible disease.  Why haven't we heard about this?  It's awful!

  2. Jennifer Jennifer United Kingdom says:

    I lost my mother to this disease when i was 15. It was horrible and sudden and it haunts me. I was told it wasn't genetic. But my mother's sister, my aunt, was the youngest person in Britain to be diagnosed. Am i at risk, is it genetic?

  3. Kay Kay United States says:

    My father was diagnosed with this disease in the late 70's.  He had 1/3 of his lung removed and part of his ribs.  He actually lived to be 82(almost 30 years), but had COPD.  My brother has just been diagnosed (his is 66), they have told him that he only has 1 - 2 years.  I fear that I may  get it as well.  I am in really good health and have not breathing problems, but I have a constant cough (sounds like I am a smoker, but I never have smoked).  Scary!   What can I do?

  4. liz wood liz wood United Kingdom says:

    I lost my mum 2 months ago to this horrible disease. My mum was amazing and never let it get her down, she was only 61 and such a glamourous woman so the oxygen wasn't the best look for her Smile she always joked about it an tried to make light of the situation. It was just 18 months from diagnosis that my mum passed away, she was admitted to Broadgreen hospital in Liverpool just after Christmas 2012. She had an infection which was to be treated with anti biotics, they didn't seem to be helping her an we just started to see my beautiful mum fade away, she was in the highest amount of oxygen and she was still finding it hard to breath, once again she was trying to keep positive as she was on the active transplant list, well I'll never know how much she was keeping from me...she knew what a worrier I was Smile we all just hoped she would get through this blip and return home. On the 5th January we got the phone call Frown it was devastating to have lost such an amazing woman/ mother/ wife! I know she will always be around and I have had dreams where my mum has come to me and its felt so real! I feel lost as do my dad and brother but knowing my mum is free from any pain and can finally breath again gives me comfort! Though I will miss her for the rest of my life! There needs to be more about this devastating illness! I really feel for anyone who has gone or is going through this! Love you mum, always have and always will xxxxxx

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News-Medical.Net.
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