title: Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency.
abstract: The mitochondrial DNA (mtDNA) of two unrelated infants with lethal respiratory chain defects was studied using denaturing gradient gel analysis. This analysis revealed melting behavior differences suggesting a point mutation(s) in a restriction fragment containing the apocytochrome b and tRNA(thr) genes. Sequencing revealed that patient 1 had an A to G mutation at nt 15924 which is the last base pair of the anticodon stem adjacent to the anticodon loop of tRNA(thr). Patient 2 had an A to G mutation at nt 15923 which is the last base of the anticodon loop. The results suggest that mtDNA mutations affecting the anticodon loop structure of tRNA(thr) cause mitochondrial disease that is fatal in infancy.
authors.affiliation: Department of Biology, Tufts University, Medford, MA 02155.
authors.forename: K L
authors.initials: KL
authors.lastname: Yoon
authors.forename: J R
authors.initials: JR
authors.lastname: Aprille
authors.forename: S G
authors.initials: SG
authors.lastname: Ernst
mesh_terms: D000926:Anticodon / Q000235:genetics; D001483:Base Sequence; D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000302:isolation & purification; D014450:Electron Transport Complex III / Q000235:genetics; D003576:Electron Transport Complex IV / Q000235:genetics; D005260:Female; D015894:Genome, Human; D006801:Humans; D007231:Infant, Newborn; D008930:Mitochondria, Liver / Q000378:metabolism*; D008931:Mitochondria, Muscle / Q000378:metabolism*; D008969:Molecular Sequence Data; D009154:Mutation; D012363:RNA, Transfer, Thr / Q000235:genetics*
chemical_list: D000926:Anticodon; D004272:DNA, Mitochondrial; D012363:RNA, Transfer, Thr; D003576:Electron Transport Complex IV; D014450:Electron Transport Complex III