Natural Experiment, Dogged Investigation, Yield Clue to Devastating Neurological Disease
After a 29-year quest, Ian Duncan, a professor of veterinary medicine at the University of Wisconsin-Madison, has finally pinpointed the cause of a serious neurologic disease in a colony of rats. His new study is more than the conclusion of a personal and intellectual odyssey, however. Duncan has just shown that the rat abnormality closely resembles a rare human mutation that results in severe neurologic dysfunction. The human disease can affect many parts of the brain and has been called H-ABC. Indeed, both conditions arise from mutations in the same gene. Crucially, both abnormalities affect the production and maintenance of myelin — the white, fatty insulation that nerves need to carry electrical signals. The deterioration of myelin in the brain causes the common neurologic disorder multiple sclerosis. Myelin defects are also at the root of the leukodystrophies — genetic disorders that include H-ABC. Duncan’s examination of nervous system tissue from both conditions revealed a telltale overgrowth of tiny tubes known as microtubules in oligodendrocytes, the cells that make myelin and deposit it on nerve fibers.
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1st Annual Aspen Conference on Pediatric Cerebrovascular Disease and Stroke
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