Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Discovery of Brain Disorder Gene Paves Way for Genetic Test

16.12.2003


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.


Douglas A. Marchuk, PhD
Credit: Duke University Medical Center



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.

Kendall Morgan | dukemed news
Further information:
http://www.dukemednews.org/news/article.php?id=7300

More articles from Health and Medicine:

nachricht Microgel powder fights infection and helps wounds heal
14.11.2018 | Michigan Technological University

nachricht Spread of deadly eye cancer halted in cells and animals
13.11.2018 | Johns Hopkins Medicine

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

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

Im Focus: A Chip with Blood Vessels

Biochips have been developed at TU Wien (Vienna), on which tissue can be produced and examined. This allows supplying the tissue with different substances in a very controlled way.

Cultivating human cells in the Petri dish is not a big challenge today. Producing artificial tissue, however, permeated by fine blood vessels, is a much more...

Im Focus: A Leap Into Quantum Technology

Faster and secure data communication: This is the goal of a new joint project involving physicists from the University of Würzburg. The German Federal Ministry of Education and Research funds the project with 14.8 million euro.

In our digital world data security and secure communication are becoming more and more important. Quantum communication is a promising approach to achieve...

Im Focus: Research icebreaker Polarstern begins the Antarctic season

What does it look like below the ice shelf of the calved massive iceberg A68?

On Saturday, 10 November 2018, the research icebreaker Polarstern will leave its homeport of Bremerhaven, bound for Cape Town, South Africa.

Im Focus: Penn engineers develop ultrathin, ultralight 'nanocardboard'

When choosing materials to make something, trade-offs need to be made between a host of properties, such as thickness, stiffness and weight. Depending on the application in question, finding just the right balance is the difference between success and failure

Now, a team of Penn Engineers has demonstrated a new material they call "nanocardboard," an ultrathin equivalent of corrugated paper cardboard. A square...

Im Focus: Coping with errors in the quantum age

Physicists at ETH Zurich demonstrate how errors that occur during the manipulation of quantum system can be monitored and corrected on the fly

The field of quantum computation has seen tremendous progress in recent years. Bit by bit, quantum devices start to challenge conventional computers, at least...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

“3rd Conference on Laser Polishing – LaP 2018” Attracts International Experts and Users

09.11.2018 | Event News

On the brain’s ability to find the right direction

06.11.2018 | Event News

European Space Talks: Weltraumschrott – eine Gefahr für die Gesellschaft?

23.10.2018 | Event News

 
Latest News

Epoxy compound gets a graphene bump

14.11.2018 | Materials Sciences

Microgel powder fights infection and helps wounds heal

14.11.2018 | Health and Medicine

How algae and carbon fibers could sustainably reduce the athmospheric carbon dioxide concentration

14.11.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>