Rimmed vacuoles with beta-amyloid and tau protein deposits in the muscle of children with hereditary myopathy.
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.
Fidziańska
Anna
A
Neuromuscular Unit MRC, Polish Academy of Science, Pawińskiego 5, 02-106, Warsaw, Poland. neurmyol@cmdik.pan.pl
Glinka
Zofia
Z
D000293:Adolescent; D016229:Amyloid beta-Peptides / Q000378:metabolism*; D002648:Child; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology; D020914:Myopathies, Structural, Congenital / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D018979:Myositis, Inclusion Body / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D010766:Phosphorylation; D014617:Vacuoles / Q000378:metabolism* / Q000473:pathology; D016875:tau Proteins / Q000378:metabolism*
D016229:Amyloid beta-Peptides; C054369:MAPT protein, human; D016875:tau Proteins