A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

We have identified a 15-bp microdeletion in a highly conserved region of the mitochondrially encoded gene for cytochrome c oxidase (COX) subunit III in a patient with severe isolated COX deficiency and recurrent myoglobinuria. The mutant mitochondrial DNA (mtDNA) comprised 92% of the mtDNA in muscle...

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Published inNature genetics Vol. 12; no. 4; pp. 410 - 416
Main Authors Keightley, J. Andrew, Hoffbuhr, Kristen C, Burton, Miriam D, Salas, Virginia M, Johnston, Wendy S.W, Penn, Andrew M.W, Buist, Neil R.M, Kennaway, Nancy G
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group 01.04.1996
Subjects
Adolescent
Amino Acid Sequence
Animals
Base Sequence
Biological and medical sciences
Cytochrome-c Oxidase Deficiency
Diseases of striated muscles. Neuromuscular diseases
DNA - genetics
DNA, Mitochondrial - genetics
Electron Transport Complex IV - chemistry
Electron Transport Complex IV - genetics
Female
Genotype
Histocytochemistry
Humans
Medical sciences
Molecular Sequence Data
Muscle, Skeletal - enzymology
Myoglobinuria - enzymology
Myoglobinuria - genetics
Neurology
Phenotype
Protein Conformation
Recurrence
Sequence Deletion
Sequence Homology, Amino Acid
Human
Nervous system diseases
Enzyme
Deficiency
Cytochrome-c oxidase
Metabolic diseases
Subunit
Enzymopathy
Congenital disease
Cerebral disorder
Striated muscle disease
Mitochondria
Phenotype
Gene
Deletion
Genetics
Mitochondrial myopathy
Oxidoreductases
Mutation
Myoglobinuria
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Summary:We have identified a 15-bp microdeletion in a highly conserved region of the mitochondrially encoded gene for cytochrome c oxidase (COX) subunit III in a patient with severe isolated COX deficiency and recurrent myoglobinuria. The mutant mitochondrial DNA (mtDNA) comprised 92% of the mtDNA in muscle and 0.7% in leukocytes. Immunoblots and immunocytochemistry suggested a lack of assembly or instability of the complex. Microdissected muscle fibres revealed significantly higher portions of mutant mtDNA in COX-negative than in COX-positive fibres. This represents the first case of isolated COX deficiency to be defined at the molecular level.
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ISSN:1061-4036
1546-1718
DOI:10.1038/ng0496-410