Gussoni Laboratory

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Division of Genetics, Program in Genomics - Boston Children's Hospital

The laboratory is focused on studying human derived muscle side population (SP) cells. Muscle SP cells are thought to be putative tissue-specific stem cells. Studies in mice have shown that muscle SP cells are enriched for progenitors that can fuse to dystrophic muscle after injection in the circulation. For this reason muscle SP cells are being optimized in pre-clinical studies for cell-based therapy of muscular dystrophy. Little is known about these cells derived from human muscle. We are studying human muscle SP cells purified from both fetal and adult tissues to determine 1) how muscle SP cells relate to other myogenic progenitors and 2) to understand the mechanisms by which muscle SP cells progress into the myogenic lineage.

Another important focus of the laboratory is to dissect the mechanisms by which vertebrate (mouse and human) muscle cells, including SP cells, fuse in vitro to produce multinucleated myotubes, and in vivo to pre-existing myofibers. Although several candidate genes have been identified and studied in Drosophila, less is known about vertebrate-derived myoblasts. Understanding these basic mechanisms may reveal important clues on designing successful cell-based therapies for muscle disorders.

Lastly, we are interested in optimizing pre-clinical studies of cell-based therapy of muscular dystrophy using human-derived muscle stem cells. These studies include delivery of human muscle SP cells or ALDH+ cells to mouse models of human muscular dystrophy and assessment of their therapeutic efficacy.

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