title: Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation.
abstract: OBJECTIVE
  To assess the effect of heteroplasmy on the expression of Leber's hereditary optic neuropathy (LHON) in a large family with the 3460 LHON mutation.
  
  
  METHODS
  Mutation detection was performed by restriction enzyme digestion of polymerase chain reaction (PCR) products. Heteroplasmy was estimated by quantitation of wild type:mutant product ratios.
  
  
  RESULTS
  There is a significant association between levels of mutant mtDNA and manifestation of the disease phenotype.
  
  
  CONCLUSIONS
  As a high proportion of families with the 3460 mutation demonstrate heteroplasmy; this is likely to be a significant factor in disease expression.
authors.affiliation: Department of Paediatrics, John Radcliffe Hospital, Headington, Oxford.
authors.forename: G C
authors.initials: GC
authors.lastname: Black
authors.forename: K
authors.initials: K
authors.lastname: Morten
authors.forename: A
authors.initials: A
authors.lastname: Laborde
authors.forename: J
authors.initials: J
authors.lastname: Poulton
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial