HOME >> MEDICINE >> NEWS
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
Koepk002@mc.duke.edu
919-684-4148
Duke University Medical Center
30-Sep-1999


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:
*Name:
*Comment:
*Email:
TAG: Gene responsible for cerebral venous abnormalities found

(Date:1/22/2015)... 23, 2015 The U.S. Pharmacopeial Convention ... Director of Clinical Pharmacy Services at North Carolina State’s ... of the 2015 Beal Award for Distinguished Volunteer Service—the ... relied on the contributions of volunteer experts to direct ...
(Date:1/22/2015)... 23, 2015 LunaDress, with its top dressmaking ... industry. Now, the business is showing its latest designs of ... , According to the company’s CEO, all the fresh new ... with big discounts, up to 80% off. All the clothes ...
(Date:1/22/2015)... January 22, 2015 Woodloch Pines, an ... been selected by TripAdvisor as the number one best large ... best in the world for their annual Travelers’ Choice Awards. ... community . The website is home to millions of unbiased ...
(Date:1/22/2015)... 2015 Padre Murphy's and Owner Tom Boyle ... Pro Player Health Alliance (PPHA). The PPHA's passion for ... everyone, including NFL greats, treated for obstructive sleep apnea (OSA) ... supporting the cause in the valley. The most recent plans ...
(Date:1/22/2015)... January 22, 2015 The Incredible Bulk is ... Pakulski to increase lean muscle by up to 30lbs in ... the attention of HealthyandFitZone.com’s Stan Stevenson, prompting an investigative review. ... is a step-by-step, scientific diet formula that allows the body ...
Breaking Medicine News(10 mins):Health News:Gigi Davidson, Pioneer in Veterinary Pharmacy and Leader in Pharmacy Compounding, honored with USP’s Beal Award for Dedication to Public Health 2Health News:Gigi Davidson, Pioneer in Veterinary Pharmacy and Leader in Pharmacy Compounding, honored with USP’s Beal Award for Dedication to Public Health 3Health News:Gigi Davidson, Pioneer in Veterinary Pharmacy and Leader in Pharmacy Compounding, honored with USP’s Beal Award for Dedication to Public Health 4Health News:LunaDress Shows The Latest Styles Of Wedding Dresses In 2015 2Health News:TripAdvisor Names Woodloch Pines Best Hotel for Families in America 2Health News:TripAdvisor Names Woodloch Pines Best Hotel for Families in America 3Health News:Padre Murphy's Holds NFL Retired Players Association Party Star Studded Event With Bud Light and Pro Player Health Alliance Sponsoring 2Health News:Padre Murphy's Holds NFL Retired Players Association Party Star Studded Event With Bud Light and Pro Player Health Alliance Sponsoring 3Health News:The Incredible Bulk: Review Examining Ben Pakulski’s Brand New Bulking Muscle Building Diet Program Released 2
(Date:1/23/2015)... 23, 2015 Tianyin Pharmaceutical Inc. (NYSE Amex: ... the development and sale of patented biopharmaceutical medicine, modernized ... ingredients (API) today announced the business and development progress ... 1. Following the September 2014 JCM application (No. ...
(Date:1/22/2015)... 22, 2015 /PRNewswire/ - Pivotal Therapeutics Inc. (OTCQX:PVTTF; CSE:PVO), ("Pivotal" or ... Omega-3 therapies for cardiovascular disease and overall health is pleased ... in 2014 and its outlook for 2015 from the CEO, ... We would like to take this opportunity to ...
(Date:1/22/2015)... Jan. 22, 2015 Research and Markets ( ... "Infectious Disease Diagnostics Market by Product, Application, Technology, End ... their offering. , The infectious disease diagnostics ... to reach $18,156.2 million by 2019 from $12,422.8 million ...
Breaking Medicine Technology:TPI's JCM Updates on Import Registration for International Clients 2TPI's JCM Updates on Import Registration for International Clients 3TPI's JCM Updates on Import Registration for International Clients 4Pivotal Therapeutics: Year in Review and CEO Update 2Pivotal Therapeutics: Year in Review and CEO Update 3Pivotal Therapeutics: Year in Review and CEO Update 4Pivotal Therapeutics: Year in Review and CEO Update 5Pivotal Therapeutics: Year in Review and CEO Update 6Pivotal Therapeutics: Year in Review and CEO Update 7Global Infectious Disease Diagnostics (Instruments, Reagents, Services, Software) Market - Forecast to 2019 2Global Infectious Disease Diagnostics (Instruments, Reagents, Services, Software) Market - Forecast to 2019 3
Cached News: