Abstract
We report a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) who harbored a novel missense mutation at mtDNA position 9957 in the gene specifying subunit III of cytochrome c oxidase (COX III). This T-->C transition converted Phe-251, a highly conserved amino acid in the C-terminus of the polypeptide, to Leu. The mutation, which was not present in 107 normal controls or in 57 patients with various mitochondrial diseases, was heteroplasmic in both muscle and blood of the proband and in blood from his asymptomatic mother. These results provide evidence that the MELAS clinical phenotype can be due not only to mutations in mtDNA-encoded tRNA genes, but in polypeptide-coding genes as well.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Child
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DNA, Mitochondrial / genetics*
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DNA, Mitochondrial / metabolism
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Electron Transport Complex IV / genetics
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Humans
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MELAS Syndrome / genetics*
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MELAS Syndrome / pathology
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Male
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Molecular Sequence Data
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Muscles / metabolism
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Muscles / pathology
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Peptide Biosynthesis
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Peptides / genetics*
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Point Mutation
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Polymorphism, Single-Stranded Conformational
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Succinate Dehydrogenase / metabolism
Substances
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DNA, Mitochondrial
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Peptides
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Succinate Dehydrogenase
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Electron Transport Complex IV
Associated data
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GENBANK/J04815
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GENBANK/L06178
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GENBANK/L20934
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GENBANK/M17619
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GENBANK/M37275
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GENBANK/M68929
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GENBANK/M74839
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GENBANK/M83760
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GENBANK/M91245
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GENBANK/V00654
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GENBANK/V00662
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GENBANK/V00711
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GENBANK/X02890
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GENBANK/X03240
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GENBANK/X04764
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GENBANK/X12631
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GENBANK/X13975
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GENBANK/X14848
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GENBANK/X15131
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GENBANK/X17006
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GENBANK/X52392
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GENBANK/X54252
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GENBANK/X54253
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GENBANK/X57669
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GENBANK/X61145
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GENBANK/X63726
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GENBANK/X69067
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GENBANK/X72004
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GENBANK/X72204
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GENBANK/Z17208