(Press-News.org) AURORA, Colo. (April 15, 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."
INFORMATION:
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.
END
As small and active flying mammals, bats have very high mass-specific energy requirements and as such continually adjust their rates of activity and metabolism in response to ambient temperature and other seasonal variation. In particular, during the autumn mating season, male bats must carefully balance time spent foraging (to gain enough fat to last the winter hibernation) with time spent finding a mate. Because both activities require significant effort, how do male bats do it? In an upcoming issue of Physiological and Biochemical Zoology, Nina Becker and colleagues ...
Specific DNA once dismissed as junk plays an important role in brain development and might be involved in several devastating neurological diseases, UC San Francisco scientists have found.
Their discovery in mice is likely to further fuel a recent scramble by researchers to identify roles for long-neglected bits of DNA within the genomes of mice and humans alike.
While researchers have been busy exploring the roles of proteins encoded by the genes identified in various genome projects, most DNA is not in genes. This so-called junk DNA has largely been pushed aside ...
AUDIO:
Learn about research on decision-making in this podcast with Carlos Brody, an associate professor of molecular biology affiliated with the Princeton Neuroscience Institute and a Howard Hughes Medical Institute Investigator....
Click here for more information.
Making decisions involves a gradual accumulation of facts that support one choice or another. A person choosing a college might weigh factors such as course selection, institutional reputation and the quality of ...
Researchers from North Carolina State University believe they have solved a puzzle that has vexed science since plants first appeared on Earth.
In a groundbreaking paper published online this week in Proceedings of the National Academy of Sciences, the researchers provide the first three-dimensional model of an enzyme that links a simple sugar, glucose, into long-chain cellulose, the basic building block within plant cell walls that gives plants structure. Cellulose is nature's most abundant renewable biomaterial and an important resource for production of biofuels that ...
AURORA, Colo. (April 15, 2013) – Researchers at the Linda Crnic Institute for Down Syndrome and the University of Colorado School of Medicine have found that a single mechanism may underlie the damaging effect of cholesterol on the brain and on blood vessels.
High levels of blood cholesterol increase the risk of both Alzheimer's disease and heart disease, but it has been unclear exactly how cholesterol damages the brain to promote Alzheimer's disease and blood vessels to promote atherosclerosis.
Using insights gained from studying two much rarer disorders, Down Syndrome ...
Projections of rainfall changes from global warming have been very uncertain because scientists could not determine how two different mechanisms will impact rainfall. The two mechanisms turn out to complement each other and together shape the spatial distribution of seasonal rainfall in the tropics, according to the study of a group of Chinese and Hawaii scientists that is published in the April 14, 2013, online issue of Nature Geoscience.
The one mechanism, called "wet-gets-wetter," predicts that rainfall should increase in regions that already have much rain, with a ...
Raising tobacco prices is one of the most effective means of reducing tobacco use, particularly among price-sensitive smokers such as young people and people with low incomes. But when the UK government has been raising cigarette taxes to increase prices and deter smoking, tobacco companies have been absorbing the tax increases on their ultra-low-price (ULP) brands to keep their prices low. As a result, real ULP cigarette prices have remained virtually unchanged since 2006 and their market share has doubled, suggesting that as cigarette taxes rise, many smokers downtrade ...
A new study published in the American College of Rheumatology (ACR) journal, Arthritis Care & Research, reveals that women with rheumatoid arthritis (RA) who were on methotrexate (MTX), a drug commonly used to reduce inflammation caused by RA, had lower rates of induced abortions compared to women with RA who were not exposed to the medication. Findings indicate that women with RA exposed to anti-tumor necrosis factor (anti-TNF) drugs may have increased abortion rates compared to unexposed women.
Experts estimate that 1.3 million U.S. adults have RA—an inflammatory disease ...
Circumcision drastically alters the microbiome of the penis, changes that could explain why circumcision offers protection against HIV and other viral infections. In a study to be published on April 16 in mBio®, the online open-access journal of the American Society for Microbiology, researchers studied the effects of adult male circumcision on the types of bacteria that live under the foreskin before and after circumcision. By one year post-procedure, the total bacterial load in that area had dropped significantly and the prevalence of anaerobic bacteria, which thrive ...
The use of social media by older people can offer valuable additional support in cases of sickness and diseases, new research from the University of Luxembourg has shown.
In a new publication, Dr Anja Leist from the University's Research Unit INSIDE, concludes that possibilities for a systematic application in clinical practice seem promising.
With the rise of user-friendly devices such as tablets and other web-enabled devices, older adults now engage in social media, such as online social networks, discussion boards, and online forums, more frequently. The evidence ...
