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PACKARD CENTER AND ALSA JOIN FORCES As of February 1, ALSA will help fund the work of three Center scientists, Philip Wong, Ph.D., Huaibin Cai, Ph.D., and David Borchelt, Ph.D. All are basic scientists whose work focuses on understanding precisely how ALS harms motor neuron cells. Wong and Cai are focusing on the role of the abnormally short protein alsin, which is the product of a mutant gene associated with a rare form of juvenile ALS. Because it's abnormal, the alsin protein apparently cannot function in cells. By knocking out the alsin gene altogether, the researchers are developing an animal model that mimics the human condition. They'll follow the animals for signs of disease, specifically observing changes in motor neurons. Additionally, the team is creating ways to track what's going on molecularly in the animal model cells. "For a variety of reasons, it's challenging work," Wong says. While the function of alsin is a mystery, its structure has given scientists clues about how it brings about disease. "Figuring out how alsin leads to the death of cells should be a major step in understanding all types of ALS, not just this very rare juvenile form," says Lucie Bruijn, Ph.D., the science director for the ALS Association. "As new genes linked to the disease are discovered," she adds, "scientists may find that common disease pathways exist. Such paths would make natural targets for therapy." In the second jointly-funded project, David Borchelt will work with the more traditional ALS model, that of SOD1 mice ---- animals that carry a mutant human gene linked with a slightly more common inherited form of ALS. Borchelt will systematically remove parts of the abnormal SOD1 protein, trying to find which part is responsible for the protein's known ability to form large clumps in motor neuron cells. The work could shore up earlier studies that suggest the clumping or aggregation is tied to cell disease. The role of aggregation in disease has gained increasing attention during the past few years. Such clumping may be a part of the most common sporadic form of ALS as well as the more unusual familial forms. Once Borchelt or others pinpoint SOD1's "hot spot" for aggregation,
the scientists believe, designing a drug or other means to put it out
of commission would be the next step of choice. |
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