Gene responsible for cerebral venous abnormalities found

Note to editors: A team of French researchers is announcing similar findings in a news release embargoed for 4 p.m. EDT Thursday. Their findings will appear in the next issue of Nature Genetics. Due to the nature of the discovery, editors of Human Molecular Genetics are lifting their embargo.

DURHAM, N.C. - A group of American researchers, led by geneticists at Duke University Medical Center, has found one of the genes known to be responsible for an inherited form of cerebral cavernous malformations, a difficult-to-detect condition that can cause massive brain hemorrhages. The scientists said discovery of a cerebral cavernous malformations (CCM) gene could herald important medical advances for individuals and families with this condition--especially for the Mexican-American community, which appears to show a higher incidence of CCM than other ethnic groups.

"With DNA testing, we can now pick up the mutation in kids who are not showing symptoms and follow them closely," said Douglas A. Marchuk, lead geneticist of the Duke group. AThis is the significance of the discovery. We can now help alleviate a great deal of the fear surrounding this condition by focusing our efforts on those children and adults who are truly at risk."

Initial genetic analysis of the Mexican-American families included in the study revealed evidence of a so-called "founder effect," which suggests most of the families are descended from a common ancestor. Of the 21 Mexican-American families included in the study, 16 had the same genetic mutation. Different mutations in the same gene in other non-Hispanic families were included in the study as well.

Cerebral cavernous mutations are lesions of large, abnormally shaped blood vessels in the brain. People with CCM often suffer from seizures (sometimes misdiagnosed as epilepsy) or recurrent, severe headaches B usually beginning in their 20s or

Contact: Tracey Koepke
Duke University Medical Center

Page: 1 2 3

Related medicine news :

1. Failure to count Iraqi casualties is irresponsible, say experts
2. Radon in the home responsible for 9% of lung cancer deaths across Europe
3. Gene mutations responsible for childhood cataracts discovered
4. Advances in understanding brain circuits responsible for tics in Tourettes shed light on disorder
5. No significant genetic difference in viruses responsible for two major Hong Kong SARS outbreaks
6. New studies show factors responsible for enhanced response to music
7. Visceral fat loss after dieting is not necessarily responsible for disease risk improvements
8. More frequent ivermectin treatment could reduce symptoms of disease responsible for river blindness
9. MRI superior to ultrasound in predicting cerebral palsy in preterm infants
10. Fetal heart monitoring ineffective at diagnosing cerebral palsy
11. New guidelines for cerebral palsy recommend early neuroimaging tests

Post Your Comments:

(Date:11/25/2015)... Rouge, LA (PRWEB) , ... November 25, 2015 , ... ... in the United States District Court of Connecticut on behalf of a home health ... behalf of all current or former home health care workers employed by Humana, Inc., ...
(Date:11/25/2015)... ... 2015 , ... Dental professionals who would like to become more proficient on ... Dr. Mark Iacobelli’s Advanced Implant Mentoring (AIM) CE course. Courses will be held on ... co-founders of Advanced Implant Mentoring (AIM), Dr. Iacobelli and Dr. D’Orazio are proud to ...
(Date:11/25/2015)... ... 2015 , ... On November 23rd 2015 Cozy Products, a division ... business. Cozy Products explains what this means for business moving forward. , The Tri ... Products business model: to sell personal heaters that reduce energy consumption, are economical and ...
(Date:11/25/2015)... Evanston, IL (PRWEB) , ... November 25, 2015 ... ... homage to six decades of music, friendships, and learning in its 65th Anniversary ... be held Dec. 5-6. , For 65 years, Brillianteen has been ...
(Date:11/25/2015)... Missouri (PRWEB) , ... November 25, 2015 , ... ... HEAL, will provide scholarships for people struggling with eating disorders as a result ... from the second annual event, held at Fox Run Golf Club in Eureka, ...
Breaking Medicine News(10 mins):
(Date:11/25/2015)... , Nov. 25, 2015 AAIPharma ... planned investment of at least $15.8  Million to ... Wilmington, NC . The expansion will ... to meet the growing demands of the pharmaceutical ... site expansion will provide up to 40,000 ...
(Date:11/25/2015)... -- Henry Schein, Inc., the world,s largest provider of health ... animal health practitioners, will unveil at the Greater New ... Pavilion , which brings together for the first time ... help any practice or laboratory enter the digital age. ... of experts appearing at the Pavilion. --> ...
(Date:11/25/2015)... 25, 2015  Trovagene, Inc. (NASDAQ: TROV ), ... Chief Executive Officer Antonius Schuh, Ph.D., is scheduled to ... Annual Piper Jaffray Healthcare Conference. th ... Palace Hotel in New York ... Mr. Schuh will be available for one-on-one meetings during ...
Breaking Medicine Technology:
Cached News: