Gussoni E, Bennett RR, Muskiewicz KR, Meyerrose T, Nolta JA, Gilgoff I, Stein J, Chan, YM, Lidov HG, Bönnemann CG, von Moers A, Morris GE, den Dunnen JT, Chamberlain JS, Kunkel LM and Weinberg K.  Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation.  The Journal of Clinical Investigation.  110:807-814 (2002). Abstract Duchenne muscular dystrophy (DMD) is a severe progressive muscle wasting disorder caused by mutations in the dystrophin gene.  Studies have shown that bone marrow cells transplanted into lethally irradiated mdx mice, the mouse model of DMD, can become part of skeletal muscle myofibers.  Whether or not human marrow cells also have this ability is unknown.  Here we report the analysis of muscle biopsies from a DMD patient (DMD-BMT1) who received bone marrow transplantation at age 1 year for X-linked severe combined immune deficiency (X-SCID) and was diagnosed with DMD at age 12 years.  Analysis of muscle biopsies from DMD-BMT1 revealed the presence of donor nuclei within a small number of muscle myofibers (0.5-0.9%).

The majority of the myofibers produce a truncated, in-frame isoform of dystrophin lacking exons 44 and 45 (not wild-type).  The presence of bone marrow-derived donor nuclei in the muscle of this patient documents the ability of exogenous human bone marrow cells to fuse into skeletal muscle and persist up to 13 years after transplantation.