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Is the mitochondrial complex I ND5 gene a hot‐spot for MELAS causing mutations?
Author(s) -
Liolitsa Danae,
Rahman Shamina,
Benton Sarah,
Carr Lucinda J.,
Hanna Michael G.
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10435
Subject(s) - heteroplasmy , mitochondrial dna , melas syndrome , mitochondrial encephalomyopathy , genetics , lactic acidosis , point mutation , biology , mitochondrial disease , transversion , mitochondrial myopathy , gene , chronic progressive external ophthalmoplegia , mutation , microbiology and biotechnology , endocrinology
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 2003