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Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation

Nature volume 356, pages 435–438 (1992)Cite this article

Abstract

GENE delivery by transplantation of normal myoblasts has been proposed as a treatment of the primary defect, lack of the muscle protein dystrophin, that causes Duchenne muscular dystrophy (DMD), a lethal human muscle degenerative disorder1,2. To test this possibility, we transplanted normal myoblasts from a father or an unaffected sibling into the muscle of eight boys with DMD, and assessed their production of dystrophin. Three patients with deletions in the dystrophin gene expressed normal dystrophin transcripts in muscle biopsy specimens taken from the transplant site one month after myoblast injection. Using the polymerase chain reaction we established that the dystrophin in these biopsies derived from donor myoblast DNA. These results show that trans-planted myoblasts persist and produce dystrophin in muscle fibres of DMD patients.

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Authors and Affiliations

  1. Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, California, 94305, USA

    Emanuela Gussoni & Lawrence Steinman

  2. Department of Pharmacology, Stanford University School of Medicine, Stanford, California, 94305, USA

    Grace K. Pavlath, Andrea M. Lanctot & Helen M. Blau

  3. Neuromuscular Research Division, California Pacific Medical Center, San Francisco, California, 94118, USA

    Khema R. Sharma & Robert G. Miller

Authors
  1. Emanuela Gussoni
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  2. Grace K. Pavlath
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  4. Khema R. Sharma
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  6. Lawrence Steinman
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  7. Helen M. Blau
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Gussoni, E., Pavlath, G., Lanctot, A. et al. Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation. Nature 356, 435–438 (1992). https://doi.org/10.1038/356435a0

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