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 3D images of cancer cells in the body: Medical physicists from Halle present new method
16.05.2018 | Martin-Luther-Universität Halle-Wittenberg

nachricht Better equipped in the fight against lung cancer
16.05.2018 | Friedrich-Alexander-Universität Erlangen-Nürnberg

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: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

Im Focus: Dozens of binaries from Milky Way's globular clusters could be detectable by LISA

Next-generation gravitational wave detector in space will complement LIGO on Earth

The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...

Im Focus: Entangled atoms shine in unison

A team led by Austrian experimental physicist Rainer Blatt has succeeded in characterizing the quantum entanglement of two spatially separated atoms by observing their light emission. This fundamental demonstration could lead to the development of highly sensitive optical gradiometers for the precise measurement of the gravitational field or the earth's magnetic field.

The age of quantum technology has long been heralded. Decades of research into the quantum world have led to the development of methods that make it possible...

Im Focus: Computer-Designed Customized Regenerative Heart Valves

Cardiovascular tissue engineering aims to treat heart disease with prostheses that grow and regenerate. Now, researchers from the University of Zurich, the Technical University Eindhoven and the Charité Berlin have successfully implanted regenerative heart valves, designed with the aid of computer simulations, into sheep for the first time.

Producing living tissue or organs based on human cells is one of the main research fields in regenerative medicine. Tissue engineering, which involves growing...

Im Focus: Light-induced superconductivity under high pressure

A team of scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg investigated optically-induced superconductivity in the alkali-doped fulleride K3C60under high external pressures. This study allowed, on one hand, to uniquely assess the nature of the transient state as a superconducting phase. In addition, it unveiled the possibility to induce superconductivity in K3C60 at temperatures far above the -170 degrees Celsius hypothesized previously, and rather all the way to room temperature. The paper by Cantaluppi et al has been published in Nature Physics.

Unlike ordinary metals, superconductors have the unique capability of transporting electrical currents without any loss. Nowadays, their technological...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

 
Latest News

Supersonic waves may help electronics beat the heat

18.05.2018 | Power and Electrical Engineering

Keeping a Close Eye on Ice Loss

18.05.2018 | Information Technology

CrowdWater: An App for Flood Research

18.05.2018 | Information Technology

VideoLinks
Science & Research
Overview of more VideoLinks >>>