Duchenne Muscular Dystrophy
One significant initiative of the Cellular Therapies Program is the study of Duchenne Muscular Dystrophy (DMD), an X-linked genetic disorder afflicting one in 3,500 boys, most of who will die before their 30th birthday. A new line of myogenic-derived stem cells (MDSC), identified and isolated by Institute researchers, offers new hope for DMD patients worldwide. In mouse studies these new stem cells not only demonstrated the ability to express certain myogenic proteins, but, when genetically engineered to contain a gene encoding for dystrophin, have actually produced dystrophin in the affected muscles.
McGowan Institute Deputy Director Johnny Huard, PhD, who first identified the line of stem cells, believes that a minimally invasive treatment for DMD will result from his discovery, a treatment in which the patient's own stem cells are isolated, transfected in vitro to carry a functioning dystrophin gene, and reinjected into the patient's dystrophin-lacking muscle.
At present, Huard and his colleagues are further isolating and characterizing the MDSC for both cellular and ex vivo gene therapies. Functionally, these cells display both an improved capacity for regenerating skeletal muscle following transplantation and possess an ability to differentiate into tissue lineages other than skeletal muscle, including smooth muscle and osteogenic, neural and endothelial cells. This means they show promise for a variety of other conditions, including improved bone healing, cartilage and ligament repair, as well as treatment of urinary incontinence.
They have further been phenotypically characterized in vitro for expression of both myogenic-specific proteins and classic stem cell surface proteins, and have been found to be distinct from satellite cells, previously considered the earliest muscle precursor cell. The functional characteristics of this novel population of MDSC may enable the creation of the functional organ constructs that are planned by the Institute.