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

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LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.

Pathogenic point mutations in the mitochondrial MTND1 gene have previously been described in association with two distinct clinical phenotypes -- Leber hereditary optic neuropathy (LHON) and mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Here we report the first heteroplasmic mitochondrial DNA (mtDNA) point mutation (3376G>A) in the MTND1 gene associated with an overlap syndrome comprising the clinical features of both LHON and MELAS. Muscle histochemistry revealed subtle mitochondrial abnormalities, while biochemical analysis showed an isolated complex I deficiency. Our findings serve to highlight the growing importance of mutations in mitochondrial complex I structural genes in MELAS and its associated overlap syndromes.[1]

References

  1. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. Blakely, E.L., de Silva, R., King, A., Schwarzer, V., Harrower, T., Dawidek, G., Turnbull, D.M., Taylor, R.W. Eur. J. Hum. Genet. (2005) [Pubmed]
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