title: NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.
abstract: BACKGROUND
  Neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome have been associated to m.8993T>G/C mutations in the subunit 6 of the ATP synthase (p.MT-ATP6).
  
  
  METHODS
  We have performed a mutational screening of the mitochondrial DNA gene encoding for this protein in 62 patients with the disease, that do not carry any of the common mutations described to date.
  
  
  RESULTS
  We report clinical and molecular data in one patient who harbours a de novo insertion in the MT-ATP6 gene that results in a truncated subunit. The mutation was heteroplasmic (85%) in muscle DNA and the BN-PAGE analysis showed a clear decrease in the amount of ATP synthase.
  
  
  CONCLUSIONS
  Molecular analysis of NARP patients cannot be limited to the search of the m.8993T>G/C and either the ATP6 or the whole mtDNA should be sequenced.
authors.affiliation: Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50013-Zaragoza, Spain.
authors.forename: E
authors.initials: E
authors.lastname: López-Gallardo
authors.forename: A
authors.initials: A
authors.lastname: Solano
authors.forename: M D
authors.initials: MD
authors.lastname: Herrero-Martín
authors.forename: I
authors.initials: I
authors.lastname: Martínez-Romero
authors.forename: M D
authors.initials: MD
authors.lastname: Castaño-Pérez
authors.forename: A L
authors.initials: AL
authors.lastname: Andreu
authors.forename: A
authors.initials: A
authors.lastname: Herrera
authors.forename: M J
authors.initials: MJ
authors.lastname: López-Pérez
authors.forename: E
authors.initials: E
authors.lastname: Ruiz-Pesini
authors.forename: J
authors.initials: J
authors.lastname: Montoya
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001259:Ataxia / Q000235:genetics*; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008297:Male; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics*; D008969:Molecular Sequence Data; D018908:Muscle Weakness / Q000235:genetics*; D017354:Point Mutation; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017421:Sequence Analysis; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial; C412204:ATP synthase subunit 6; D025261:Mitochondrial Proton-Translocating ATPases