Reciprocal expression of dystrophin and utrophin in muscles of Duchenne muscular dystrophy patients, female DMD-carriers and control subjects

J Neurol Sci. 1993 Oct;119(1):43-52. doi: 10.1016/0022-510x(93)90190-a.

Abstract

We examined muscle biopsies from patients with Duchenne muscular dystrophy (DMD: 39 patients) and Becker muscular dystrophy (BMD: 11 patients), female DMD-carriers (4 patients), and control subjects (26 persons) for the expression of dystrophin and utrophin. Control subjects showed all fibers to be dystrophin-positive, while utrophin staining was negative or weak. On the other hand, muscles from DMD patients showed the inverse staining patterns: dystrophin was negative and utrophin staining strong. Thus, there was a reciprocal pattern of expression between dystrophin and utrophin. This reciprocal relationship was confirmed to some extent at the single-fiber level in female carriers of DMD showing a mosaic immunostaining of dystrophin. We consider that utrophin may have a function similar to that of dystrophin, and compensate to some extent for dystrophin deficiency in DMD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Antibodies, Monoclonal / immunology
  • Child
  • Child, Preschool
  • Cytoskeletal Proteins / biosynthesis*
  • Cytoskeletal Proteins / genetics
  • Dystrophin / biosynthesis*
  • Dystrophin / genetics
  • Female
  • Heterozygote
  • Humans
  • Immunohistochemistry
  • Infant
  • Male
  • Membrane Proteins*
  • Muscles / metabolism*
  • Muscles / pathology
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / metabolism*
  • Muscular Dystrophies / pathology
  • Sarcolemma / immunology
  • Sarcolemma / metabolism
  • Utrophin

Substances

  • Antibodies, Monoclonal
  • Cytoskeletal Proteins
  • Dystrophin
  • Membrane Proteins
  • Utrophin