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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

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.[1]


  1. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? Liolitsa, D., Rahman, S., Benton, S., Carr, L.J., Hanna, M.G. Ann. Neurol. (2003) [Pubmed]
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