title: The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.
abstract: BACKGROUND
  The number of molecular causes of MELAS (a syndrome consisting of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) and Leigh syndrome (LS) has steadily increased. Among these, mutations in the ND5 gene (OMIM 516005) of mitochondrial DNA are important, and the A13513A change has emerged as a hotspot.
  
  
  OBJECTIVE
  To describe the clinical features, muscle pathological and biochemical characteristics, and molecular study findings of 12 patients harboring the G13513A mutation in the ND5 gene of mitochondrial DNA compared with 14 previously described patients with the same mutation.
  
  
  METHODS
  Clinical examinations and morphological, biochemical, and molecular analyses.
  
  
  METHODS
  Tertiary care university hospital and molecular diagnostic laboratory.
  
  
  METHODS
  Three patients had the typical syndrome features of MELAS; the other 9 had typical clinical and radiological features of LS.
  
  
  RESULTS
  Family history suggested maternal inheritance in a few cases; morphological studies of muscle samples rarely showed typical ragged-red fibers and more often exhibited strongly succinate dehydrogenase-reactive blood vessels. Biochemically, complex I deficiency was inconsistent and generally mild. The mutation load was relatively high in the muscle and blood specimens.
  
  
  CONCLUSIONS
  The G13513A mutation is a common cause of MELAS and LS, even in the absence of obvious maternal inheritance, pathological findings in muscle, or severe complex I deficiency.
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
authors.forename: Sara
authors.initials: S
authors.lastname: Shanske
authors.forename: Jorida
authors.initials: J
authors.lastname: Coku
authors.forename: Jiesheng
authors.initials: J
authors.lastname: Lu
authors.forename: Jaya
authors.initials: J
authors.lastname: Ganesh
authors.forename: Sindu
authors.initials: S
authors.lastname: Krishna
authors.forename: Kurenai
authors.initials: K
authors.lastname: Tanji
authors.forename: Eduardo
authors.initials: E
authors.lastname: Bonilla
authors.forename: Ali B
authors.initials: AB
authors.lastname: Naini
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000378:metabolism; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000235:genetics* / Q000473:pathology; D017241:MELAS Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D009131:Muscle, Smooth, Vascular / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; D013385:Succinate Dehydrogenase; C481838:MT-ND5 protein, human; D003576:Electron Transport Complex IV; D042967:Electron Transport Complex I