Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy.
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
S
Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy.
Malandrini
A
A
Ginanneschi
F
F
Berti
G
G
Cardaioli
E
E
De Stefano
R
R
Franci
M
M
Salvadori
C
C
Mari
F
F
Bruttini
M
M
Rossi
A
A
Federico
A
A
Renieri
A
A
D000328:Adult; D000368:Aged; D001706:Biopsy / Q000379:methods; D004272:DNA, Mitochondrial / Q000032:analysis; D005192:Family Health; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron / Q000379:methods; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000235:genetics / Q000473:pathology* / Q000648:ultrastructure; D008967:Molecular Biology / Q000379:methods; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D039141:Muscular Dystrophy, Oculopharyngeal / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009460:Neurologic Examination; D010375:Pedigree; D039103:Poly(A)-Binding Protein II / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
D004272:DNA, Mitochondrial; D039103:Poly(A)-Binding Protein II