Browse by author
Lookup NU author(s): Dr Mazhor Aldosary, Professor Robert Taylor
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
Cytochrome c oxidase (COX) is the terminal enzyme of the respiratory chain, with subunits originating both from the mitochondrial and nuclear genome. An eleven-year-old female presented initially with a seizure followed two months later with tonic-clonic seizures, weakness and aphasia. MRI of the cerebral hemispheres showed multiple infarcts. Previous history suggested gross and fine motor control deficits with learning difficulties. A muscle biopsy showed a specific decrease of COX staining in all fibres and pleomorphic mitochondria. Respiratory chain studies confirmed an isolated complex IV defect in muscle, whilst fibroblasts showed an initial COX activity below normal which rapidly came up to the normal range on culture. Sequencing of mtDNA revealed an heteroplasmic m.7023G>A mutation in the COX1 gene, with levels of 96% in muscle, 70% in blood and 50% in the initial skin fibroblast culture dropping to 10% in later passages. The mutation was present in a critical region of the COX1 gene, the V374M change being close to the two histidine residues His376 and His378 co-ordinating with the heme a and a(3), and His367 which co-ordinates a magnesium ion. This case highlights that a MELAS-like syndrome can occur with isolated COX deficiency
Author(s): Tam EWY, Feigenbaum A, Addis JBL, Blaser S, MacKay N, Al-Dosary M, Taylor RW, Ackerley C, Cameron JM, Robinson BH
Publication type: Article
Publication status: Published
Journal: Neuropediatrics
Year: 2008
Volume: 39
Issue: 6
Pages: 328-334
ISSN (print): 0174-304X
ISSN (electronic): 1439-1899
Publisher: Georg Thieme Verlag
URL: http://dx.doi.org/10.1055/s-0029-1202287
DOI: 10.1055/s-0029-1202287
Altmetrics provided by Altmetric
