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mtDNA mutations in Chilean patients with optic neuropathy
  1. C LUCO,
  2. M SCHWEITZER
  1. Instituto de Neurocirugía “Dr Asenjo”
  2. Departmento de Pediatria, P Universidad Católica de Chile
  3. Unidad Neuromuscular, Departamento de Neurología, Hospital Clínico de la P Universidad Católica de Chile, Marcoleta 367, Santiago, Chile
  1. Dr R Fadic rfadic{at}med.puc.cl
  1. G REPETTO
  1. Instituto de Neurocirugía “Dr Asenjo”
  2. Departmento de Pediatria, P Universidad Católica de Chile
  3. Unidad Neuromuscular, Departamento de Neurología, Hospital Clínico de la P Universidad Católica de Chile, Marcoleta 367, Santiago, Chile
  1. Dr R Fadic rfadic{at}med.puc.cl
  1. C LOBOS,
  2. R FADIC
  1. Instituto de Neurocirugía “Dr Asenjo”
  2. Departmento de Pediatria, P Universidad Católica de Chile
  3. Unidad Neuromuscular, Departamento de Neurología, Hospital Clínico de la P Universidad Católica de Chile, Marcoleta 367, Santiago, Chile
  1. Dr R Fadic rfadic{at}med.puc.cl

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The aetiology of acute unilateral (AUON) and bilateral optic neuropathies (BSON) is unknown in most patients in Chile, after compressive lesions, collagen vascular diseases, and toxin exposure are ruled out. By contrast, up to 85% of white patients with clinically isolated AUON will develop multiple sclerosis. In Chile, both the incidence of multiple sclerosis and the risk of developing it after an acute unilateral or bilateral optic neuropathy, is significantly lower (4.3%).1 It has been suggested that K and J mitochondrial DNA (mtDNA) haplotypes, characteristic of the European genetic background, might contribute to susceptibility to multiple sclerosis.2 Research in the genetic epidemiology of cholesterol cholelithiasis among Chileans showed that 88% of Chilean Hispanics harbour Amerindian mtDNA haplotypes.3

Clinically isolated BSON is less well understood than AUON. A study conducted in London reported that four out of 23 patients (17%) with BSON had mtDNA mutations related to Leber hereditary optic neuropathy (LHON), and that a similar proportion developed multiple sclerosis.4 As in multiple sclerosis, mtDNA lineage may have a role in the expression of LHON. Brown et al demonstrated the clustering of patients with LHON, especially those with the 14484 mutation, on European haplogroup J.5

Three mtDNA point mutations are considered primary mutations for LHON at …

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