Defective assembly of the respiratory chain.
A functional respiratory chain is dependent on protein components encoded by both mtDNA and nuclear DNA. Isolated cytochrome c oxidase (COX) deficiency is often caused by mutations in nuclear genes regulating the assembly of the 13 protein subunits of this complex. The accompanying paper by Zeman and co-workers reports that mutations in SCO2 are common in infantile COX deficiency and are associated with a very poor prognosis.


CONCLUSIONS
Molecular diagnosis is often feasible in patients with COX deficiency and particular attention should be paid to mutations in COX assembly genes.
Esteitie
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Department of Woman and Child Health, Novum, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden.
Larsson
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D002648:Child; D030401:Cytochrome-c Oxidase Deficiency / Q000235:genetics*; D004579:Electron Transport / Q000235:genetics*; D006801:Humans