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

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