title: A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.
abstract: 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.
authors.affiliation: Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.
authors.forename: Katharina
authors.initials: K
authors.lastname: Maniura-Weber
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Johnson
authors.forename: Zofia
authors.initials: Z
authors.lastname: Chrzanowska-Lightowlers
authors.forename: Andrew A M
authors.initials: AA
authors.lastname: Morris
authors.forename: Charles P J
authors.initials: CP
authors.lastname: Charlton
authors.forename: Douglass M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: Laurence A
authors.initials: LA
authors.lastname: Bindoff
mesh_terms: 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
chemical_list: D004272:DNA, Mitochondrial; D012364:RNA, Transfer, Trp; D003576:Electron Transport Complex IV