title: Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation.
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 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.
authors.affiliation: Department of Neurology and Neurological Sciences, Stanford University School of Medicine, California 94305.
authors.forename: E
authors.initials: E
authors.lastname: Gussoni
authors.forename: G K
authors.initials: GK
authors.lastname: Pavlath
authors.forename: A M
authors.initials: AM
authors.lastname: Lanctot
authors.forename: K R
authors.initials: KR
authors.lastname: Sharma
authors.forename: R G
authors.initials: RG
authors.lastname: Miller
authors.forename: L
authors.initials: L
authors.lastname: Steinman
authors.forename: H M
authors.initials: HM
authors.lastname: Blau
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D006680:HLA Antigens / Q000235:genetics; D006650:Histocompatibility Testing; D006801:Humans; D008969:Molecular Sequence Data; D009132:Muscles / Q000637:transplantation*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000601:surgery*; D009838:Oligodeoxyribonucleotides; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction / Q000379:methods; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D014158:Transcription, Genetic
chemical_list: D016189:Dystrophin; D006680:HLA Antigens; D009838:Oligodeoxyribonucleotides; D015345:Oligonucleotide Probes; D012333:RNA, Messenger