Journal
MUSCLE & NERVE
Volume 41, Issue 6, Pages 746-750Publisher
WILEY
DOI: 10.1002/mus.21702
Keywords
chronic granulomatous disease; Duchenne muscular dystrophy; dystrophin; stem cell therapy; umbilical cord blood transplantation
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Funding
- National Institutes of Health and National Institute of Neurological Disorders and Stroke [K08 NS048180, 5P50NS040828]
- Muscular Dystrophy Association [114353]
- Howard Hughes Medical Institute
- Manton Center for Orphan Disease Research
- Bernard and Alva B. Gimbel Foundation
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We report a boy who received two allogeneic stem cell transplantations from umbilical cord donors to treat chronic granulomatous disease (CGD). The COD was cured after the second transplantation, but 2.5 years later he was diagnosed with Duchenne muscular dystrophy (DMD). Examinations of his DNA, muscle tissue, and myoblast cultures derived from muscle tissue were performed to determine whether any donor dystrophin was being expressed. The boy was found to have a large-scale deletion on the X chromosome that spanned the loci for CYBB and DMD. The absence of dystrophin led to muscle histology characteristic of DMD. Analysis of myofibers demonstrated no definite donor cell engraftment. This case suggests that umbilical cord derived hematopoietic stem cell transplantation will not be efficacious in the therapy of DMD without additional interventions that induce engraftment of donor cells in skeletal muscle. Muscle Nerve 41: 746-750, 2010
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