Approximately one million people worldwide suffer from BAVMs, though very little is known about the molecular mechanisms that cause them. Results from an ongoing clinical trial funded by the National Institutes of Health on the effectiveness of brain surgery, the only treatment option for the disease, questions whether the risks associated with surgery outweigh the risk of "waiting for a rupture," the UCSF researchers say.
"Our study offers hope for future treatments because even the effects of stroke such as paralysis and ataxia, or loss of muscle coordination, were reversed once we turned off Notch," said Patrick A. Murphy, lead author on the paper and a graduate student from the UCSF Biomedical Science Program, working with Wang. "This pathway has not yet been implicated in human disease, so these findings prompted our ongoing research into Notch signaling and allow us to examine the cellular and molecular mechanisms of BAVM."
Knowledge gained about development of BAVM may also shed light on the process of blood vessel disease in other organs like the lung and liver, according to the UCSF team. "In the future, we may be able to inhibit or even reverse the disease process," said Tyson Kim, co-author on the paper and a bioengineering graduate student from the UCSF MD/PhD combined program, working with Wang.
Based on the study findings, the UCSF team now considers Notch a strong candidate as a key regulator of human BAVM and is undertaking additional research to find the disease's cause. In addition to using the mouse model to study disease progression and regression, Wang and colleagues also are studying the gene's role in human AVMs by examining levels of Notch signaling pathway molecules in surgical tissue samples.
"Although more work needs to be done to determine whether the research can be applied to clinical practice and whether up-regulation of Notch causes BAVM and stroke in humans, identifying the role of this pa
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| Contact: Lauren Hammit lhammit@pubaff.ucsf.edu 415-476-2557 University of California - San Francisco Source:Eurekalert |
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