A patient with two mitochondrial DNA mutations causing PEO and LHON.
We report a 22-year-old man with PEO and optic atrophy. PEO developed before the onset of optic atrophy. The patient showed mitochondrial myopathy with cytochrome c oxidase deficient fibers. In skeletal muscle the patient was homoplasmic for the mtDNA G11778A Leber hereditary optic neuropathy (LHON) mutation and heteroplasmic for the mtDNA 5 kb "common" deletion mutation. In blood only the homoplasmic LHON mutation was identified. The occurrence of two pathogenic mtDNA mutations is exceedingly rare. The clinical findings in this patient indicate that the combination of the two mtDNA mutations resulted in the expected combined phenotype since the mtDNA deletion mutation accounted for the PEO and the mtDNA G11778A point mutation for the optic atrophy.
Melberg
Atle
A
Department of Neuroscience, University Hospital, Uppsala, Sweden.
Moslemi
Ali-Reza
AR
Palm
Oscar
O
Raininko
Raili
R
Stålberg
Erik
E
Oldfors
Anders
A
D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000235:genetics*; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D017354:Point Mutation; D017384:Sequence Deletion; D055815:Young Adult
D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV