A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.
We report a novel, heteroplasmic point mutation in the mitochondrial tRNA for tryptophan at position 5532. The mutation was present in all the tissues studied and segregated with the biochemical defect, with higher levels of mutation present in cytochrome c oxidase-deficient muscle fibres. The patient manifested a neurogastrointestinal syndrome with features including failure to thrive, psychomotor retardation, ophthalmoplegia, sensorineural deafness and encephalopathy together with vomiting, diarrhoea and colitis.
Maniura-Weber
Katharina
K
Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.
Taylor
Robert W
RW
Johnson
Margaret A
MA
Chrzanowska-Lightowlers
Zofia
Z
Morris
Andrew A M
AA
Charlton
Charles P J
CP
Turnbull
Douglass M
DM
Bindoff
Laurence A
LA
D000293:Adolescent; D001483:Base Sequence; D020090:Chromosome Segregation; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000378:metabolism; D005260:Female; D005767:Gastrointestinal Diseases / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics*; D008969:Molecular Sequence Data; D018485:Muscle Fibers, Skeletal / Q000201:enzymology; D009886:Ophthalmoplegia / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D012364:RNA, Transfer, Trp / Q000235:genetics*; D013577:Syndrome
D004272:DNA, Mitochondrial; D012364:RNA, Transfer, Trp; D003576:Electron Transport Complex IV