Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene

The authors describe a patient who presented with headache, seizures, and severe cerebral edema in whom they identified a novel mutation in the mitochondrial (mt-) tRNA(His) gene. This G12147A transition is heteroplasmic, predicted to disrupt a highly conserved base pair, and segregates with the cyt...

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Veröffentlicht in:	Neurology 2004-04, Vol.62 (8), p.1420-1423
Hauptverfasser:	Taylor, R W, Schaefer, A M, McDonnell, M T, Petty, R K H, Thomas, A M, Blakely, E L, Hayes, C M, McFarland, R, Turnbull, D M
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biopsy Brain Edema - etiology Disease Progression DNA Mutational Analysis DNA, Mitochondrial - genetics Electron Transport Complex IV - metabolism Headache - etiology Humans Male Mitochondrial Diseases - complications Mitochondrial Diseases - diagnosis Mitochondrial Diseases - genetics Molecular Sequence Data Muscle Fibers, Fast-Twitch - chemistry Muscle Fibers, Fast-Twitch - metabolism Muscle Fibers, Fast-Twitch - pathology Muscle, Skeletal - enzymology Muscle, Skeletal - pathology Mutation Nucleic Acid Conformation Optic Atrophy - etiology Phenotype Reye Syndrome - complications RNA, Transfer, His - genetics Seizures - etiology Sequence Homology, Nucleic Acid
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Zusammenfassung:	The authors describe a patient who presented with headache, seizures, and severe cerebral edema in whom they identified a novel mutation in the mitochondrial (mt-) tRNA(His) gene. This G12147A transition is heteroplasmic, predicted to disrupt a highly conserved base pair, and segregates with the cytochrome c oxidase deficiency in single muscle fibers.
ISSN:	1526-632X
DOI:	10.1212/01.WNL.0000120667.77372.46