Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.
We report on a 25-year-old patient with isolated mitochondrial complex III deficiency and a new heteroplasmic mutation (T14849C) in the cytochrome b gene. He suffered from septo-optic dysplasia, retinitis pigmentosa, exercise intolerance, hypertrophic cardiomyopathy, and rhabdomyolysis. A HESX1 mutation was excluded as a cause of his septo-optic dysplasia. Low alpha-tocopherol concentrations in his muscles and an elevated urinary leukotriene E(4) excretion indicate increased production of reactive oxygen species.
Schuelke
Markus
M
Department Neuropediatrics, Charité University Hospital, Berlin, Germany. markus.schuelke@charite.de
Krude
Heiko
H
Finckh
Barbara
B
Mayatepek
Ertan
E
Janssen
Antoon
A
Schmelz
Michael
M
Trefz
Friedrich
F
Trijbels
Frans
F
Smeitink
Jan
J
D000328:Adult; D000595:Amino Acid Sequence / Q000235:genetics; D000975:Antioxidants / Q000378:metabolism; D002478:Cells, Cultured; D003573:Cytochrome b Group / Q000235:genetics*; D014450:Electron Transport Complex III / Q000172:deficiency; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D017999:Leukotriene E4 / Q000652:urine; D008297:Male; D008928:Mitochondria / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000201:enzymology; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D025962:Septo-Optic Dysplasia / Q000235:genetics* / Q000378:metabolism
D000975:Antioxidants; D003573:Cytochrome b Group; D017999:Leukotriene E4; D014450:Electron Transport Complex III