Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2 |
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Authors: | Becher M W Kotzuk J A Davis L E Bear D G |
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Institution: | Department of Pathology, University of New Mexico, Health Sciences Center, Albuquerque 87131, USA. |
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Abstract: | 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. |
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