We report a family with a clinical diagnosis of oculopharyngeal muscular dystrophy in which muscle biopsy showed mitochondrial changes such as cytochrome-c-oxidase-negative fibers and aggregates of mitochondria containing paracrystalline inclusions. Molecular analysis demonstrated a GCG expansion in the poly(A)-binding protein 2 (PABP2) gene and failed to demonstrate multiple deletions of mtDNA. We hypothesize that mitochondrial abnormalities may be a secondary phenomenon. This observation may suggest that the PABP2 gene could interfere in the posttranscriptional regulation of genes involved in mitochondrial function.

1.
Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, Lafreniere RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codere F, Fardeau M, Rouleau GA, Korczyn AD: Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998;18:164–167.
2.
Müller T, Schröder R, Zierz S: GCG repeats and phenotype in oculopharyngeal muscular dystrophy. Muscle Nerve 2001;24:120–122.
3.
Schröder JM, Krabbe B, Weis J: Oculopharyngeal muscular dystrophy: Clinical and morphological follow-up study reveals mitochondrial alterations and unique nuclear inclusions in a severe autosomal recessive type. Neuropathol Appl Neurobiol 1995;21:68–73.
4.
Wong KT, Dick D, Anderson JR: Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. Neuromusc Disord 1996;6:163–166.
5.
Pauzner R, Blatt I, Mouallem M, Ben-David E, Farfel Z, Sadeh M: Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. Muscle Nerve 1991;14:947–952.
6.
Oldfors A, Moslemi AR, Fyhr IM, Holme E, Larsson NG, Lindberg C: Mitochondrial DNA deletions in muslce fibers in inclusion body myositis. J Neuropathol Exp Neurol 1995;54:581–587.
7.
Jansson M, Darin N, Kyllerman M, Martinsson T, Wahlström J, Oldfors A: Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy. Acta Neuropathol 2000;100:23–28.
8.
Horvath R, Fu K, Johns T, Genge A, Karpati G, Shoubridge EA: Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis. J Neuropathol Exp Neurol 1998;57:396–403.
9.
Levine TD, Pestronk A: Inflammatory myopathy with cytochrome oxidase negative muscle fibers: Methotrexate treatment. Muscle Nerve 1998;21:1724–1728.
10.
Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA Thorburn DR: Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 2002;59:1406–1411.
11.
Andersson U, Antonicka H, Houstek J, Cannon B: A novel principle for conferring selectivity to poly(A)-binding proteins: Interdependence of two ATP synthase beta-subunit mRNA-binding proteins. Biochem J 2000;346:33–39.
12.
Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K: The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. Hum Mol Genet 2001;10:1129–1139.
13.
Sambrook J, Fritsch EF, Manitias T: Molecular Cloning: A Laboratory Manual. Cold Spring Harbor, Cold Spring Harbor Laboratory Press, 1989.
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.