Human circulating AC133(+) stem cells restore dystrophin expression and ameliorate function in dystrophic skeletal muscle

J Clin Invest. 2004 Jul;114(2):182-95. doi: 10.1172/JCI20325.

Abstract

Duchenne muscular dystrophy (DMD) is a common X-linked disease characterized by widespread muscle damage that invariably leads to paralysis and death. There is currently no therapy for this disease. Here we report that a subpopulation of circulating cells expressing AC133, a well-characterized marker of hematopoietic stem cells, also expresses early myogenic markers. Freshly isolated, circulating AC133(+) cells were induced to undergo myogenesis when cocultured with myogenic cells or exposed to Wnt-producing cells in vitro and when delivered in vivo through the arterial circulation or directly into the muscles of transgenic scid/mdx mice (which allow survival of human cells). Injected cells also localized under the basal lamina of host muscle fibers and expressed satellite cell markers such as M-cadherin and MYF5. Furthermore, functional tests of injected muscles revealed a substantial recovery of force after treatment. As these cells can be isolated from the blood, manipulated in vitro, and delivered through the circulation, they represent a possible tool for future cell therapy applications in DMD disease or other muscular dystrophies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • AC133 Antigen
  • Adolescent
  • Adult
  • Animals
  • Antigens, CD
  • Biomarkers
  • Cell Differentiation / physiology
  • Cell Transplantation
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Coculture Techniques
  • Dystrophin / genetics
  • Dystrophin / metabolism*
  • Glycoproteins / metabolism*
  • Hematopoietic Stem Cells / cytology
  • Hematopoietic Stem Cells / physiology*
  • Humans
  • Mice
  • Mice, Inbred mdx
  • Mice, SCID
  • Mice, Transgenic
  • Muscle, Skeletal / cytology
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiology*
  • Muscle, Skeletal / physiopathology*
  • Muscular Dystrophy, Duchenne / metabolism*
  • Muscular Dystrophy, Duchenne / pathology
  • Muscular Dystrophy, Duchenne / physiopathology
  • Peptides / metabolism*
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / metabolism
  • Satellite Cells, Skeletal Muscle / cytology
  • Satellite Cells, Skeletal Muscle / physiology
  • Signal Transduction / physiology
  • Wnt Proteins

Substances

  • AC133 Antigen
  • Antigens, CD
  • Biomarkers
  • Dystrophin
  • Glycoproteins
  • PROM1 protein, human
  • Peptides
  • Prom1 protein, mouse
  • Proto-Oncogene Proteins
  • Wnt Proteins