Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation

Markus Schuelke; Heiko Krude; Barbara Finckh; Ertan Mayatepek; Antoon Janssen; Michael Schmelz; Friedrich Trefz; Frans Trijbels; Jan Smeitink

doi:10.1002/ana.10151

Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation

Ann Neurol. 2002 Mar;51(3):388-92. doi: 10.1002/ana.10151.

Authors

Markus Schuelke¹, Heiko Krude, Barbara Finckh, Ertan Mayatepek, Antoon Janssen, Michael Schmelz, Friedrich Trefz, Frans Trijbels, Jan Smeitink

Affiliation

¹ Department Neuropediatrics, Charité University Hospital, Berlin, Germany. markus.schuelke@charite.de

PMID: 11891837
DOI: 10.1002/ana.10151

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Amino Acid Sequence / genetics
Antioxidants / metabolism
Cells, Cultured
Cytochrome b Group / genetics*
Electron Transport Complex III / deficiency
Fibroblasts / enzymology
Humans
Leukotriene E4 / urine
Male
Mitochondria / metabolism*
Muscle, Skeletal / enzymology
Mutation*
Pedigree
Polymorphism, Genetic / genetics
Septo-Optic Dysplasia / genetics*
Septo-Optic Dysplasia / metabolism

Substances

Antioxidants
Cytochrome b Group
Leukotriene E4
Electron Transport Complex III