Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2.
Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to 10.0% of myocyte nuclei contained discreet PABP2 immunoreactive intranuclear inclusions, providing the first direct evidence of the relation between the proposed gene for OPMD and the pathology of OPMD.
Becher
M W
MW
Department of Pathology, University of New Mexico, Health Sciences Center, Albuquerque 87131, USA.
Kotzuk
J A
JA
Davis
L E
LE
Bear
D G
DG
D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000473:pathology*; D009132:Muscles / Q000473:pathology*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology*; D039102:Poly(A)-Binding Proteins; D016601:RNA-Binding Proteins / Q000032:analysis*
D039102:Poly(A)-Binding Proteins; D016601:RNA-Binding Proteins