Featured Research

from universities, journals, and other organizations

Discovery Of Brain Disorder Gene Paves Way For Genetic Test

Date:
December 16, 2003
Source:
Duke University Medical Center
Summary:
Duke University Medical Center researchers have identified the second of three genes that can each independently cause the disorder known as cerebral cavernous malformations (CCM), which is characterized by mulberry-like clusters of blood vessels in the brain.

DURHAM, N.C. -- Duke University Medical Center researchers have identified the second of three genes that can each independently cause the disorder known as cerebral cavernous malformations (CCM), which is characterized by mulberry-like clusters of blood vessels in the brain. The finding paves the way for a new genetic test for the rare, familial disease, which typically lies dormant in patients for decades before its potentially devastating symptoms appear, said the researchers.

Related Articles


The vessel lesions in the brain can cause seizures, severe headaches, hemorrhagic stroke and neurological deficits. Affected individuals have a 50 percent chance of passing the disease on to their children.

"People with this mutation are at great risk for developing blood vessel lesions in the brain and their associated symptoms, as are their future children," said Duke geneticist Douglas Marchuk, Ph.D., who led the study. "This is an example where genetic testing can make a tremendous impact on the care these families receive." Physicians currently diagnose patients only when lesions are found on an MRI scan after symptoms develop.

The team reports its findings in the December 2003 issue of The American Journal of Human Genetics. The work was supported by the National Institutes of Health and the American Heart Association.

Earlier research into the genetic basis of CCM found that three separate genes in the human genome can, when mutated, cause the disease in different families. In 1999, Marchuk's team and a second group in France independently discovered the first of these genes, called KRIT1.

Although KRIT1's function remains unknown, the Duke team more recently found that the protein binds a second protein related to a family of receptors called integrins. Integrins are responsible for cells' ability to respond appropriately to their external environments.

That clue led the team to search the second genetic region linked to CCM for aberrant genes resembling KRIT1's known protein binding partner.

Nine families with the "type 2" form of CCM harbored eight different mutations in a single gene bearing structural similarity to KRIT1's partner, the researchers now report. They call the newly identified CCM gene "malcavernin."

"While some individuals with CCM have essentially no symptoms, others suffer profound effects on a day-to-day basis," said genetic counselor Tracey Leedom also of Duke. "The identification of this gene will allow more people with a familial history of the disease to be tested early. If they are found to have the gene, physicians can then conduct an MRI and begin monitoring them carefully for any symptoms."

Lesions can be surgically removed from the brain in some patients, she added. For others, only the symptoms can be treated.

The team will next seek out the last of the genes known to cause CCM, Marchuk said. The investigators have also begun exploring the biological basis of CCM in mice with the disease.

Others at Duke that contributed to the research include lead author Christina Liquori, Ph.D., Elizabeth Huang, Jon Zawistowski, Fiyinfolu Balogun, Lori Hughes and Nicholas Plummer, Ph.D. Additional collaborators include Michel Berg, M.D., at the University of Rochester Medical Center; Adrian Siegel, M.D., at the University Hospital Zurich; T'Prien Stoffer and Eric Johnson, Ph.D., at the Barrow Neurological Institute in Phoenix; Dominique Verlaan, Ph.D., and Guy Rouleau, M.D., at Montreal General Hospital; Milena Cannella, M.D., Vittorio Maglione, M.D., and Ferdinando Squitieri, M.D., at Instituto di Ricovero e Cura a Carattere Scientifico in Italy; and Louis Ptacek, M.D., at the University of California, San Francisco.


Story Source:

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


Cite This Page:

Duke University Medical Center. "Discovery Of Brain Disorder Gene Paves Way For Genetic Test." ScienceDaily. ScienceDaily, 16 December 2003. <www.sciencedaily.com/releases/2003/12/031216074705.htm>.
Duke University Medical Center. (2003, December 16). Discovery Of Brain Disorder Gene Paves Way For Genetic Test. ScienceDaily. Retrieved October 24, 2014 from www.sciencedaily.com/releases/2003/12/031216074705.htm
Duke University Medical Center. "Discovery Of Brain Disorder Gene Paves Way For Genetic Test." ScienceDaily. www.sciencedaily.com/releases/2003/12/031216074705.htm (accessed October 24, 2014).

Share This



More Health & Medicine News

Friday, October 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Doctor in NYC Quarantined With Ebola

Doctor in NYC Quarantined With Ebola

AP (Oct. 24, 2014) An emergency room doctor who recently returned to the city after treating Ebola patients in West Africa has tested positive for the virus. He's quarantined in a hospital. (Oct. 24) Video provided by AP
Powered by NewsLook.com
Breakfast Debate: To Eat Or Not To Eat?

Breakfast Debate: To Eat Or Not To Eat?

Newsy (Oct. 23, 2014) Conflicting studies published in the same week re-ignited the debate over whether we should be eating breakfast. Video provided by Newsy
Powered by NewsLook.com
Ebola Fears Keep Guinea Hospitals Empty

Ebola Fears Keep Guinea Hospitals Empty

AP (Oct. 23, 2014) Fears of Ebola are keeping doctors and patients alike away from hospitals in the West African nation of Guinea. (Oct. 23) Video provided by AP
Powered by NewsLook.com
Despite Rising Death Toll, Many Survive Ebola

Despite Rising Death Toll, Many Survive Ebola

AP (Oct. 23, 2014) The family of a Dallas nurse infected with Ebola in the US says doctors can no longer detect the virus in her. Despite the mounting death toll in West Africa, there are survivors there too. (Oct. 23) Video provided by AP
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:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

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