Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Genetic variation contributes to pulmonary fibrosis risk

16.04.2013
A newly published study of patients with pulmonary fibrosis has discovered multiple genetic variations that should help with future efforts to treat the disease.
Pulmonary fibrosis is a condition where lung tissue becomes thickened, stiff and scarred. Currently in the United States, there are no drugs approved for use in cases of the condition's most common and severe form, which is known as idiopathic pulmonary fibrosis (IPF) because the cause of the disease is not known. In those cases, the median survival time after diagnosis is two to three years and lung transplants are the only intervention known to prolong life.

This new study found evidence that common genetic variation is an important contributor to the risk of developing IPF, accounting for approximately one-third of the risk of developing disease. The study identified seven novel genetic risk loci that include genes involved in host defense, cell-cell adhesion, and DNA repair. These findings suggest that the disease is primarily initiated by defects in the lung's ability to defend against internal and environmental challenges.

This international collaborative research was led by scientists at the University of Colorado.
"The insightful leadership of Tasha Fingerlin, extraordinary contributions of Elissa Murphy, and active participation of many others ensured the success of this research and, in aggregate, we have established the scientific basis for early recognition and have identified novel therapeutic targets for this untreatable disease," says David A. Schwartz, MD, chairman of the Department of Medicine at the University of Colorado School of Medicine and senior author of the study. "These findings will change the way we think about pulmonary fibrosis and should eventually enhance the diagnostic and therapeutic options for our patients."

Fingerlin, PhD, and Murphy, MS, also authors of the study, are researchers at the Colorado School of Public Health and the CU School of Medicine.

The study, published in the April 14 edition of the journal Nature Genetics, is the first study to map out genes associated with IPF risk on a genome-wide scale. Three previously known genetic links were confirmed and seven novel loci were identified by studying the entire genome in this progressive incurable disease.

The work was supported by the National Heart, Lung, and Blood Institute (NHLBI). "In addition to expanding the library of genetic changes that can underlie pulmonary fibrosis, this study's findings demonstrate that both rare and common genetic variants contribute significantly to pulmonary fibrosis risk," says James Kiley, PhD, Director of NHLBI's Division of Lung Diseases. "A key next step for research is figuring out how these genetic variants work with environmental factors in the development of the disease."

Faculty at the University of Colorado School of Medicine work to advance science and improve care. These faculty members include physicians, educators and scientists at University of Colorado Hospital, Children's Hospital Colorado, Denver Health, National Jewish Health, and the Denver Veterans Affairs Medical Center. The school is located on the Anschutz Medical Campus, one of four campuses in the University of Colorado system. To learn more about the medical school's care, education, research and community engagement, please visit its web site. For additional news and information, please visit the University of Colorado Denver newsroom.

Keep up with the medical school and healthcare news on Facebook.

Mark Couch | EurekAlert!
Further information:
http://www.ucdenver.edu

More articles from Life Sciences:

nachricht More genes are active in high-performance maize
19.01.2018 | Rheinische Friedrich-Wilhelms-Universität Bonn

nachricht How plants see light
19.01.2018 | Albert-Ludwigs-Universität Freiburg im Breisgau

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Artificial agent designs quantum experiments

On the way to an intelligent laboratory, physicists from Innsbruck and Vienna present an artificial agent that autonomously designs quantum experiments. In initial experiments, the system has independently (re)discovered experimental techniques that are nowadays standard in modern quantum optical laboratories. This shows how machines could play a more creative role in research in the future.

We carry smartphones in our pockets, the streets are dotted with semi-autonomous cars, but in the research laboratory experiments are still being designed by...

Im Focus: Scientists decipher key principle behind reaction of metalloenzymes

So-called pre-distorted states accelerate photochemical reactions too

What enables electrons to be transferred swiftly, for example during photosynthesis? An interdisciplinary team of researchers has worked out the details of how...

Im Focus: The first precise measurement of a single molecule's effective charge

For the first time, scientists have precisely measured the effective electrical charge of a single molecule in solution. This fundamental insight of an SNSF Professor could also pave the way for future medical diagnostics.

Electrical charge is one of the key properties that allows molecules to interact. Life itself depends on this phenomenon: many biological processes involve...

Im Focus: Paradigm shift in Paris: Encouraging an holistic view of laser machining

At the JEC World Composite Show in Paris in March 2018, the Fraunhofer Institute for Laser Technology ILT will be focusing on the latest trends and innovations in laser machining of composites. Among other things, researchers at the booth shared with the Aachen Center for Integrative Lightweight Production (AZL) will demonstrate how lasers can be used for joining, structuring, cutting and drilling composite materials.

No other industry has attracted as much public attention to composite materials as the automotive industry, which along with the aerospace industry is a driver...

Im Focus: Room-temperature multiferroic thin films and their properties

Scientists at Tokyo Institute of Technology (Tokyo Tech) and Tohoku University have developed high-quality GFO epitaxial films and systematically investigated their ferroelectric and ferromagnetic properties. They also demonstrated the room-temperature magnetocapacitance effects of these GFO thin films.

Multiferroic materials show magnetically driven ferroelectricity. They are attracting increasing attention because of their fascinating properties such as...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

10th International Symposium: “Advanced Battery Power – Kraftwerk Batterie” Münster, 10-11 April 2018

08.01.2018 | Event News

See, understand and experience the work of the future

11.12.2017 | Event News

Innovative strategies to tackle parasitic worms

08.12.2017 | Event News

 
Latest News

Let the good tubes roll

19.01.2018 | Materials Sciences

How cancer metastasis happens: Researchers reveal a key mechanism

19.01.2018 | Health and Medicine

Meteoritic stardust unlocks timing of supernova dust formation

19.01.2018 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>