Is the mitochondrial complex I ND5 gene a hot‐spot for MELAS causing mutations?
- 31 December 2002
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 53 (1) , 128-132
- https://doi.org/10.1002/ana.10435
Abstract
We identified two novel heteroplasmic mitochondrial DNA point mutations in the gene encoding the ND5 subunit of complex I: a 12770A→G transition identified in a patient with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke‐like episodes) and a 13045A→C transversion in a patient with a MELAS/Leber's hereditary optic neuropathy/Leigh's overlap syndrome. Biochemical analysis of muscle homogenates showed normal or very mildly reduced complex I activity. Histochemistry was normal. Our observations add to the evidence that mitochondrial ND5 protein coding gene mutations frequently associate with the MELAS phenotype, and it highlights the role of complex I dysfunction in MELAS. Ann Neurol 2003Keywords
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