Louis M. Kunkel
Harvard University
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Primary Section: 41, Medical Genetics, Hematology, and Oncology Membership Type:
Member
(elected 1990)
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Research Interests
My laboratory has continued to study dystrophin, its associated proteins, and relatives in hopes that by understanding normal function we would better understand abnormal function in Duchenne and Becker muscular dystrophies. Much of this work directly relates to potential therapeutic approaches. We believe that there is a built in redundancy to the cytoskeleton of muscle and nerve which allows muscle and neuronal cells to partially escape the consequences of abnormal dystrophin in dystrophy patients. We believe that understanding the normal function of dystrophin within the membrane cytoskeleton will lead to potential means of correcting for absent dystrophin and might identify additional genes involved in human genetic disease. A number of approaches to this understanding are being undertaken within the laboratory, with specific emphasis on novel proteins which are distantly related and/or bind to dystrophin. Dystrophin relatives have been identified and the cloned segments have been mapped to specific human chromosomes. One of these genes led us to our work on spinal muscular atrophy. We have also begun the characterization of dystrophin-associated proteins, and like other groups, we have identified defects in one of these proteins in some other dystrophies. As each of these genes are cloned and mapped they are tested as possible candidate genes for disorders of skeletal, cardiac, or smooth muscle, as well as neurological disorders. Overall, an understanding of all of the genes involved in the dystrophic phenotype should lead to insights on correction of the myopathic condition, the major goal of the laboratory.
