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

Emanuela Gussoni, Grace K. Pavlath, Andrea M. Lanctot, Khema R. Sharma, Robert G. Miller, Lawrence Steinman, Helen M. Blau

Research output: Contribution to journalArticlepeer-review

323 Scopus citations

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 dystrophv (DMD), a lethal human muscle degenerative disorder. 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 transplanted myoblasts persist and produce dystrophin in muscle fibres of DMD patients.

Original languageEnglish (US)
Pages (from-to)435-438
Number of pages4
JournalNature
Volume356
Issue number6368
DOIs
StatePublished - Jan 1 1992
Externally publishedYes

ASJC Scopus subject areas

  • General

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