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 cytochrome c oxidase deficiency in single muscle fibers.
Taylor
R W
RW
Mitochondrial Research Group, School of Neurology, Neurobiology, and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK. r.w.taylor@ncl.ac.uk
Schaefer
A M
AM
McDonnell
M T
MT
Petty
R K H
RK
Thomas
A M
AM
Blakely
E L
EL
Hayes
C M
CM
McFarland
R
R
Turnbull
D M
DM
D000328:Adult; D001706:Biopsy; D001929:Brain Edema / Q000209:etiology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D018450:Disease Progression; D003576:Electron Transport Complex IV / Q000378:metabolism; D006261:Headache / Q000209:etiology; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D008969:Molecular Sequence Data; D018656:Muscle Fibers, Fast-Twitch / Q000737:chemistry / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009154:Mutation; D009690:Nucleic Acid Conformation; D009896:Optic Atrophy / Q000209:etiology; D010641:Phenotype; D012354:RNA, Transfer, His / Q000235:genetics*; D012202:Reye Syndrome / Q000150:complications; D012640:Seizures / Q000209:etiology; D012689:Sequence Homology, Nucleic Acid
D004272:DNA, Mitochondrial; D012354:RNA, Transfer, His; D003576:Electron Transport Complex IV