Featured Research

from universities, journals, and other organizations

New animal model for hemophilia A developed

Date:
September 4, 2010
Source:
Yale University
Summary:
Researchers have developed a new animal model for studying hemophilia A, with the goal of eventually treating people with the disorder. Hemophilia A, a hereditary defect that prevents blood from clotting normally, is caused by a variety of mutations in the factor VIII gene.

Researchers at Yale School of Medicine have developed a new animal model for studying hemophilia A, with the goal of eventually treating people with the disorder. Hemophilia A, a hereditary defect that prevents blood from clotting normally, is caused by a variety of mutations in the factor VIII gene.

Published online in the Journal of Thrombosis and Haemostasis, the study aimed to provide a better understanding of hemophilia A, according to first author and veterinarian Carmen Jane Booth, assistant professor of comparative medicine, and co-director of Mouse Research Pathology at Yale School of Medicine.

Booth and her team studied an inbred colony of rats that lived healthily for many years before spontaneously exhibiting symptoms similar to those of humans with hemophilia A, including hemorrhage, spontaneous bruising, swollen joints, prolonged bleeding from minor wounds and unexplained deaths among pregnant and postpartum rats. The team ruled out environmental factors as being responsible for the bleeding disorder in these rats, showed that it was inherited, and conducted diagnostic tests to identify the specific coagulation factor and underlying genetic defect responsible for the disorder.

The team found that the affected animals had a decreased amount of factor VIII. They sequenced the rat factor VIII cDNA and identified a mutation in this gene that was similar to mutations in some people with severe hemophilia. The factor VIII gene is located on chromosome 18 in rats, in contrast to its location on the X chromosome in mice and humans. "The larger size of the rat and the gene location difference makes the rat a unique model, well suited to developing novel therapies for acquired and hereditary factor VIII deficiencies," said Booth.

When we get a minor cut, bleeding should stop in about 20 to 30 seconds, but in hemophiliacs, the bleeding is prolonged because the blood cannot form or maintain a proper blood clot. This can lead to bruises, injured joints and even life-threatening bleeding from everyday activities. The research team found that treating the affected rats with human recombinant factor VIII corrected their coagulation abnormality and stopped the prolonged bleeding.

"This is the only spontaneous rat model of hemophilia A," said Booth. "Rats bruise and bleed similarly to humans with hemophilia A. Ultimately, we plan to translate this model for use in developing gene therapies and evaluating novel therapeutics for treating people with hemophilia A."

Other authors on the study included veterinarian Marjory B. Brooks, and Sara Rockwell, James W. Murphy, Henry M. Rinder, M.D., Daniel Zelterman, Michael J. Paidas, M.D., Susan R. Compton and Peter W. Marks, M.D.


Story Source:

The above story is based on materials provided by Yale University. Note: Materials may be edited for content and length.


Journal Reference:

  1. C. J. Booth, M. B. Brooks, S. Rockwell, J. W. Murphy, H. M. Rinder, D. Zelterman, M. J. Paidas, S. R. Compton and P. W. Marks. WAG-F8m1Ycb Rats Harboring a Factor VIII Gene Mutation Provide a New Animal Model for Hemophilia A. Journal of Thrombosis and Haemostasis, 2010 DOI: 10.1111/j. 1538-7836.2010.03978

Cite This Page:

Yale University. "New animal model for hemophilia A developed." ScienceDaily. ScienceDaily, 4 September 2010. <www.sciencedaily.com/releases/2010/09/100903092505.htm>.
Yale University. (2010, September 4). New animal model for hemophilia A developed. ScienceDaily. Retrieved August 23, 2014 from www.sciencedaily.com/releases/2010/09/100903092505.htm
Yale University. "New animal model for hemophilia A developed." ScienceDaily. www.sciencedaily.com/releases/2010/09/100903092505.htm (accessed August 23, 2014).

Share This




More Health & Medicine News

Saturday, August 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Drug Used To Treat 'Ebola's Cousin' Shows Promise

Drug Used To Treat 'Ebola's Cousin' Shows Promise

Newsy (Aug. 21, 2014) An experimental drug used to treat Marburg virus in rhesus monkeys could give new insight into a similar treatment for Ebola. Video provided by Newsy
Powered by NewsLook.com
Two US Ebola Patients Leave Hospital Free of the Disease

Two US Ebola Patients Leave Hospital Free of the Disease

AFP (Aug. 21, 2014) Two American missionaries who were sickened with Ebola while working in Liberia and were treated with an experimental drug are doing better and have left the hospital, doctors say on August 21, 2014. Duration: 01:05 Video provided by AFP
Powered by NewsLook.com
Cadavers, a Teen, and a Medical School Dream

Cadavers, a Teen, and a Medical School Dream

AP (Aug. 21, 2014) Contains graphic content. He's only 17. But Johntrell Bowles has wanted to be a doctor from a young age, despite the odds against him. He was recently the youngest participant in a cadaver program at the Indiana University NW medical school. (Aug. 21) Video provided by AP
Powered by NewsLook.com
American Ebola Patients Released: What Cured Them?

American Ebola Patients Released: What Cured Them?

Newsy (Aug. 21, 2014) It's unclear whether the American Ebola patients' recoveries can be attributed to an experimental drug or early detection and good medical care. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins