title: A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes.
abstract: We studied a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes who had morphologically and biochemically abnormal muscle mitochondria. Molecular analysis revealed a T8316C transition in the mitochondrial DNA tRNA(Lys) gene. The mutation was homoplasmic in muscle from the proposita, heteroplasmic in her blood, and still less abundant in blood from her asymptomatic maternal relatives. The T8316C mutation affects a highly conserved base pair and was not found in controls, thus satisfying the accepted criteria for pathogenicity. Our data document the genetic heterogeneity in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome, underlining that the same syndrome may be associated with mutations of different genes.
authors.affiliation: Centro de Investigación, Hospital Universitario 12 de Octubre, Avda de Córdoba km 5.4, 28041, Madrid, Spain.
authors.forename: Y
authors.initials: Y
authors.lastname: Campos
authors.forename: G
authors.initials: G
authors.lastname: Lorenzo
authors.forename: M A
authors.initials: MA
authors.lastname: Martín
authors.forename: A
authors.initials: A
authors.lastname: Torregrosa
authors.forename: P
authors.initials: P
authors.lastname: del Hoyo
authors.forename: J C
authors.initials: JC
authors.lastname: Rubio
authors.forename: A
authors.initials: A
authors.lastname: García
authors.forename: J
authors.initials: J
authors.lastname: Arenas
mesh_terms: D000140:Acidosis, Lactic / Q000150:complications / Q000235:genetics*; D000293:Adolescent; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications / Q000235:genetics*; D008928:Mitochondria / Q000201:enzymology; D008967:Molecular Biology; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D010375:Pedigree; D017354:Point Mutation; D012357:RNA, Transfer, Lys / Q000737:chemistry / Q000235:genetics*; D020521:Stroke / Q000150:complications / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000032:analysis
chemical_list: D004272:DNA, Mitochondrial; D012357:RNA, Transfer, Lys; D013385:Succinate Dehydrogenase