Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene

J Histochem Cytochem. 2008 Nov;56(11):995-1001. doi: 10.1369/jhc.2008.951772. Epub 2008 Jul 21.

Abstract

Fukutin-related protein (FKRP) is a protein involved in the glycosylation of cell surface molecules. Pathogenic mutations in the FKRP gene cause both the more severe congenital muscular dystrophy Type 1C and the milder Limb-Girdle Type 2I form (LGMD2I). Here we report muscle histological alterations and the analysis of 11 muscle proteins: dystrophin, four sarcoglycans, calpain 3, dysferlin, telethonin, collagen VI, alpha-DG, and alpha2-laminin, in muscle biopsies from 13 unrelated LGMD2I patients with 10 different FKRP mutations. In all, a typical dystrophic pattern was observed. In eight patients, a high frequency of rimmed vacuoles was also found. A variable degree of alpha2-laminin deficiency was detected in 12 patients through immunofluorescence analysis, and 10 patients presented alpha-DG deficiency on sarcolemmal membranes. Additionally, through Western blot analysis, deficiency of calpain 3 and dystrophin bands was found in four and two patients, respectively. All the remaining proteins showed a similar pattern to normal controls. These results suggest that, in our population of LGMD2I patients, different mutations in the FKRP gene are associated with several secondary muscle protein reductions, and the deficiencies of alpha2-laminin and alpha-DG on sections are prevalent, independently of mutation type or clinical severity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Blotting, Western
  • Child
  • Child, Preschool
  • Cytosol / metabolism
  • Extracellular Matrix Proteins / biosynthesis
  • Female
  • Fluorescent Antibody Technique
  • Humans
  • Male
  • Muscle Proteins / biosynthesis*
  • Muscular Dystrophies, Limb-Girdle / metabolism*
  • Mutation
  • Pentosyltransferases
  • Proteins / genetics*
  • Sarcolemma / metabolism

Substances

  • Extracellular Matrix Proteins
  • Muscle Proteins
  • Proteins
  • FKRP protein, human
  • Pentosyltransferases