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Defective assembly of the respiratory chain
Author(s) -
Esteitie N,
Larsson NG
Publication year - 2004
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2004.tb02920.x
Subject(s) - cytochrome c oxidase , medicine , gene , mitochondrial dna , mutation , mitochondrial respiratory chain , respiratory chain , genetics , mitochondrion , biology
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. Conclusion : Molecular diagnosis is often feasible in patients with COX deficiency and particular attention should be paid to mutations in COX assembly genes.