The Jackson Laboratory Scientists Find New Mouse Model for Heritable Cerebrovascular Diseases

January 4, 2011 Bar Harbor, Maine – Researchers at The Jackson Laboratory have discovered a new mouse model for the devastating neurological condition known as focal ischemia in the brain, as well as other heritable cerebrovascular diseases. In focal ischemia, an insufficient blood supply to the brain can cause blindness, brain damage, stroke or cardiorespiratory arrest.

The new mouse model was discovered in the research colony of Jackson Professor Derry Roopenian. Research Assistant Tom Sproule was investigating why some of the lab’s mice, bred for studies relating to tissue rejection, were dying prematurely. Post-mortem examination revealed holes in the brain, similar to damage found in human patients with hereditary cerebrovascular diseases.

Sproule and Roopenian shared the model with their Jackson colleague, Associate Professor Rob Burgess, who studies neurodegenerative diseases. The researchers identified the region of the genome harboring the mutation that causes the premature deterioration and death. And in the time-honored tradition of scientific ribbing, Burgess named the mutation dcr—Roopenian’s monogram—and dubbed the new mouse model “decrepit.”

How does Roopenian feel about having a mutation named after him? “I think it’s fine,” he says. “Kinda cool. I don’t feel decrepit.”

Today, thanks to gene transfer technology, it’s possible to insert or delete genes to create a new mouse model for a given disease, based on what is known about the genetics of that disease. But scientists also value models that occur naturally, as they do in the human population.

As Dr. Leah Rae Donahue, Jackson’s director of genetic resource sciences, has said, "Spontaneous mutations provide gene discovery in its most basic form. In mice with a spontaneous mutation, you notice the clinical 'symptoms' of a disease first, and when you investigate the genetics you may discover a gene that no one suspected was involved in the disease."

Burgess published the findings in the open-source journal PLoS One with Jackson colleagues Sproule, Roopenian and Bing Wang, as well as collaborators at the Hospital for Sick Children at the University of Toronto.

The Jackson Laboratory is a nonprofit biomedical research institution based in Bar Harbor, Maine. Its mission is to discover the genetic basis for preventing, treating and curing human diseases, and to enable research and education for the global biomedical community.

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