HOME >> BIOLOGY >> NEWS
Discovery of brain disorder gene paves way for genetic test

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.

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
'"/>

Contact: Kendall Morgan
kendall.morgan@duke.edu
919-684-4966
Duke University Medical Center
15-Dec-2003


Page: 1 2

Related biology news :

1. Discovery of new shrimp species adds to unique family
2. Discovery of tiny microbes in ancient Greenland glacier may define limits for life on Earth
3. Discovery in parasite movement may offer insights into malaria
4. Scientists find second way to kill cancer cells: Discovery opens possibilities for new therapies
5. GlaxoSmithKline Drug Discovery and Development Research Grant Program 2004
6. Discovery helps explain how cells package DNA
7. Discovery offers clues to origin of life
8. Discovery could improve anemia treatment in patients
9. Discovery could lead to better treatment for cryptosporidum infections
10. Discovery may be first plant cell surface molecule that halts cell proliferation
11. Discovery may help in war against fire ants

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:8/26/2020)... ... August 24, 2020 , ... Elgia ... inflammatory and fibrotic diseases, today announced that Dr. Stacie Canan has joined the ... Dr. Canan previously served as Executive Director of Global Health at Bristol Myers ...
(Date:8/21/2020)... ... 18, 2020 , ... Sentien Biotechnologies, Inc., a clinical-stage biotechnology ... and Drug Administration (FDA) has approved the company’s Investigational New Drug (IND) application ... COVID-19. Approval of this IND allows Sentien to initiate a Phase 1/2 study ...
(Date:8/12/2020)... ... , ... Mosio recently announced its newly updated text message-based ... all sizes. With a focus on tracking symptoms and monitoring outbreaks as well ... helps public health departments automate communications and provide more personalized care and resources ...
Breaking Biology News(10 mins):
(Date:7/31/2020)... , ... July 29, 2020 , ... eSource has long ... This webinar will cover the history of eSource, the reasons it did not take ... to wearables, to site source, the industry is moving towards capturing data electronically for ...
(Date:7/18/2020)... ... July 16, 2020 , ... After research model surgery and catheter ... great surgery is only the beginning of a successful study, while protecting and accessing ... Brad Gien, Global Head of Surgery from Envigo in a live ...
(Date:7/10/2020)... ... July 08, 2020 , ... Bode Technology, ... expansion of laboratory operations through its COVID-19 testing service, Bode-CARES . Bode-CARES ... , Bode-CARES provides a turnkey solution that includes a comprehensive collection ...
(Date:7/7/2020)... ... July 06, 2020 , ... R3 International is now offering stem cell therapy ... stem cells. Depending on the patient's condition, treatment may be offered IV, intrathecal or ... some form of Alzheimers dementia, and the incidence continues to increase as individuals live ...
Breaking Biology Technology:
Cached News: