title: A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.
abstract: BACKGROUND
  Mitochondrial cytopathies are a heterogeneous group of disorders with a broad spectrum of clinical symptoms.
  
  
  OBJECTIVE
  To characterize a novel mutation in the transfer RNA(Asn) (m.5728A>G) identified in a 13-year-old boy with multiorgan failure.
  
  
  METHODS
  Biochemical and immunocytochemical studies were performed in combination with transmitochondrial cybrid analysis.
  
  
  METHODS
  A university hospital. Molecular and biochemical analyses were performed in collaboration between 2 other university hospitals.
  
  
  METHODS
  Thirteen-year-old boy with multiorgan failure.
  
  
  RESULTS
  In the patient's muscle tissue and cultured skin fibroblasts, a combined deficiency of complexes I and IV was found, using spectrophotometric analysis and activity staining in the gel following blue native polyacrylamide gel electrophoresis. An identical biochemical profile was seen in transmitochondrial cybrids carrying more than 55% mutant mitochondrial DNA.
  
  
  CONCLUSIONS
  These data suggest that the m.5728A>G transition is a pathogenic mutation and is the cause of the respiratory chain dysfunction in the propositus.
authors.affiliation: Center for Medical Genetics, Dutch-Speaking Free University of Brussels, Laarbeeklaan 101, 1090 Brussels, Belgium. ann.meulemans@vub.ac.be
authors.forename: Ann
authors.initials: A
authors.lastname: Meulemans
authors.forename: Sara
authors.initials: S
authors.lastname: Seneca
authors.forename: Lieven
authors.initials: L
authors.lastname: Lagae
authors.forename: Willy
authors.initials: W
authors.lastname: Lissens
authors.forename: Boel
authors.initials: B
authors.lastname: De Paepe
authors.forename: Joél
authors.initials: J
authors.lastname: Smet
authors.forename: Rudy
authors.initials: R
authors.lastname: Van Coster
authors.forename: Linda
authors.initials: L
authors.lastname: De Meirleir
mesh_terms: D000293:Adolescent; D001216:Asparagine / Q000235:genetics*; D001483:Base Sequence; D002478:Cells, Cultured; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000235:genetics / Q000473:pathology; D008969:Molecular Sequence Data; D009102:Multiple Organ Failure / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D012348:RNA, Transfer, Asn / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012348:RNA, Transfer, Asn; D001216:Asparagine