Word: dystrophin
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Kunkel, chief of the Division of Genetics at Children's Hospital, has been studying muscular dystrophy for 18 years. In 1986, his lab cloned the gene for the protein dystrophin, which, when defective, causes Duchenne's muscular dystrophy...
Since then his lab has been investigating how dystrophin functions in both normal and diseased muscle cells. The research has helped scientists develop strategies to replace diseased cells with healthy ones...
...article, entitled "Dystrophin Expression in the mdx Mouse Restored by Stem Cell Transplantation," describes how Kunkel and his colleagues were able to produce healthy cells in mice afflicted with muscular dystrophy...
Using transplants of stem cells located in the bone marrow of healthy mice, researchers succeeded in getting diseased mice to produce correct versions of dystrophin...
Producing more of the new form of dystrophin would involve "turning on" its genes at higher levels...