Rimmed vacuoles with beta-amyloid and tau protein deposits in the muscle of children with hereditary myopathy

Acta Neuropathol. 2006 Aug;112(2):185-93. doi: 10.1007/s00401-006-0079-3. Epub 2006 Jun 21.

Abstract

We investigated whether beta-amyloid and tau protein are involved in the formation of inclusion body myositis (IBM)-like inclusions found in children with rimmed vacuoles and congenitally affected muscles. We immunostained muscle biopsy specimens from four children and one 18-year-old boy with congenital myopathy containing rimmed vacuoles and IBM-like inclusions with antibodies against beta-amyloid, tau protein and ubiquitin. Focal accumulations of both beta-amyloid and phosphorylated tau coexisted with tubulofilamentous structures in all cases. Our studies demonstrate for the first time that the full morphological phenotype of IBM including beta-amyloid and tau protein deposits may also develop in children, and that congenital, probably genetic, muscle defects may lead to abnormal protein aggregation in IBM-like inclusions.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amyloid beta-Peptides / metabolism*
  • Child
  • Female
  • Gene Expression Regulation
  • Humans
  • Male
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology
  • Myopathies, Structural, Congenital / genetics
  • Myopathies, Structural, Congenital / metabolism
  • Myopathies, Structural, Congenital / pathology
  • Myositis, Inclusion Body / genetics
  • Myositis, Inclusion Body / metabolism*
  • Myositis, Inclusion Body / pathology
  • Phosphorylation
  • Vacuoles / metabolism*
  • Vacuoles / pathology
  • tau Proteins / metabolism*

Substances

  • Amyloid beta-Peptides
  • MAPT protein, human
  • tau Proteins