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.

Gambelli, S., Malandrini, A., Ginanneschi, F., Berti, G., Cardaioli, E., DE STEFANO, R., et al. (2004). Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy. EUROPEAN NEUROLOGY, 51(3), 144-147 [10.1159/000077070].

Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy.

MALANDRINI, ALESSANDRO;GINANNESCHI, FEDERICA;BERTI, GIANNA;CARDAIOLI, ELENA;SALVADORI, CLAUDIO;MARI, FRANCESCA;ROSSI, ALESSANDRO;FEDERICO, ANTONIO;RENIERI, ALESSANDRA
2004-01-01

Abstract

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.
2004
Gambelli, S., Malandrini, A., Ginanneschi, F., Berti, G., Cardaioli, E., DE STEFANO, R., et al. (2004). Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy. EUROPEAN NEUROLOGY, 51(3), 144-147 [10.1159/000077070].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/4308
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