Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation

Emanuela Gussoni, Richard R. Bennett, Kristina R. Muskiewicz, Todd Meyerrose, Jan Nolta, Irene Gilgoff, James Stein, Yiu Mo Chan, Hart G. Lidov, Carsten G. Bönnemann, Arpad Von Moers, Glenn E. Morris, Johan T. Den Dunnen, Jeffrey S. Chamberlain, Louis M. Kunkel, Kenneth Weinberg

Research output: Contribution to journalArticlepeer-review

170 Scopus citations


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 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 and who 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.

Original languageEnglish (US)
Pages (from-to)807-814
Number of pages8
JournalJournal of Clinical Investigation
Issue number6
StatePublished - Sep 2002
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)


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