LETTER TO JMG

Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome

C E Oquendo¹, H Antonicka², E A Shoubridge², W Reardon³, G K Brown¹

¹ Genetics Unit, Department of Biochemistry, University of Oxford, UK
² Department of Human Genetics, McGill University, Montreal, Canada
³ Our Lady’s Hospital for Sick Children, Dublin, Ireland

Correspondence to:
Correspondence to:
Dr G K Brown
Genetics Unit, Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK; garry.brown@bioch.ox.ac.uk

Revised version received 10 December 2003

Accepted 18 January 2004

Abbreviations: COX, cytochrome oxidase; CS, citrate synthase

Keywords: COX15; cytochrome oxidase; haeme a biosynthesis; Leigh syndrome

The first 150 words of the full text of this article appear below.

Leigh syndrome is a subacute necrotising encephalomyelopathy characterised by delayed onset of symptoms, hypotonia, feeding difficulties, failure to thrive, motor regression, and brain stem signs. The main laboratory findings are raised lactate in the blood and cerebrospinal fluid, but the diagnosis is only confirmed by the presence of bilateral symmetrical lesions in the basal ganglia, thalamus, brain stem, and cerebellum. Leigh syndrome can result from a number of different defects in mitochondrial energy metabolism, most commonly deficiencies of cytochrome oxidase (COX), pyruvate dehydrogenase, NADH-ubiquinone oxidoreductase (Complex I) and ATP synthase.¹ In patients with Leigh syndrome and cytochrome oxidase deficiency, the underlying genetic defect is usually a mutation in the SURF1 gene, which maps to chromosome 9q34 and encodes a cytochrome oxidase assembly factor.^2,3 In a small number of cases, Leigh syndrome and cytochrome oxidase deficiency have been found in patients with mutations in mitochondrial DNA (mtDNA)^4,5 and in one patient . . . [Full text of this article]

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