Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy.

Journal Article (Journal Article)

We report a boy who received two allogeneic stem cell transplantations from umbilical cord donors to treat chronic granulomatous disease (CGD). The CGD 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.

Full Text

Duke Authors

Cited Authors

  • Kang, PB; Lidov, HGW; White, AJ; Mitchell, M; Balasubramanian, A; Estrella, E; Bennett, RR; Darras, BT; Shapiro, FD; Bambach, BJ; Kurtzberg, J; Gussoni, E; Kunkel, LM

Published Date

  • June 2010

Published In

Volume / Issue

  • 41 / 6

Start / End Page

  • 746 - 750

PubMed ID

  • 20513101

Pubmed Central ID

  • PMC2965738

Electronic International Standard Serial Number (EISSN)

  • 1097-4598

Digital Object Identifier (DOI)

  • 10.1002/mus.21702


  • eng

Conference Location

  • United States