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

Abstract	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.
Authors	Peter B Kang, Hart G W Lidov, Alexander J White, Matthew Mitchell, Anuradha Balasubramanian, Elicia Estrella, Richard R Bennett, Basil T Darras, Frederic D Shapiro, Barbara J Bambach, Joanne Kurtzberg, Emanuela Gussoni, Louis M Kunkel
Journal	Muscle & nerve (Muscle Nerve) Vol. 41 Issue 6 Pg. 746-50 (Jun 2010) ISSN: 1097-4598 [Electronic] United States
PMID	20513101 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
Chemical References	Antibodies, Monoclonal Antibodies, Monoclonal, Humanized Antibodies, Neoplasm Dystrophin Alemtuzumab Cyclophosphamide Vidarabine fludarabine
Topics	Alemtuzumab Antibodies, Monoclonal (therapeutic use) Antibodies, Monoclonal, Humanized Antibodies, Neoplasm (therapeutic use) Child Chromosome Mapping Chromosomes, Human, X Cyclophosphamide (therapeutic use) Dystrophin (deficiency, genetics) Follow-Up Studies Gene Deletion Gene Expression Regulation Granulomatous Disease, Chronic (genetics, surgery) Hematopoietic Stem Cell Transplantation (adverse effects) Humans Male Muscular Dystrophy, Duchenne (genetics, surgery) Reoperation Transplantation, Homologous Treatment Outcome Vidarabine (analogs & derivatives, therapeutic use)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!