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.
Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy.
S
S
Gambelli
A
A
Malandrini
F
F
Ginanneschi
G
G
Berti
E
E
Cardaioli
R
R
De Stefano
M
M
Franci
C
C
Salvadori
F
F
Mari
M
M
Bruttini
A
A
Rossi
A
A
Federico
A
A
Renieri
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