Detection of mitochondrial DNA mutation 14459 associated with dystonia and/or Leber's hereditary optic neuropathy
AssigneeEmory University
InventorsDouglas C. Wallace, Michael D. Brown
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Abstract
The present invention provides an assay for diagnosing or predicting a predisposition to dystonia and/or Leber's Hereditary Optic Neuropathy by detecting the presence of a mutation in mitochondrial DNA, in the oxidative phosphorylation (OXPHOS) gene ND6, that causes a substitution in amino acid 72 of the ND6 polypeptide. In particular, the mutation can be at mtDNA position 14459. Also provided are therapeutic treatments for dystonia and/or Leber's Hereditary Optic Neuropathy, as well as methods of screening compounds for effectiveness in treating these diseases and an animal model.
Claims5
A method of detecting in a subject the presence of a class of dystonia and/or Leber's Hereditary Optic Neuropathy, comprising detecting in a sample from the subject the presence of a mutation at position 14459 of mitochondrial DNA, the presence of the mutation indicating the presence of the class of dystonia and/or Leber's Hereditary Optic Neuropathy in the subject.
A method of predicting a predisposition to developing symptoms of a class of dystonia and/or Leber's Hereditary Optic Neuropathy, comprising detecting in a sample from a subject the presence of a mutation at position 14459 of mitochondrial DNA, the presence of the mutation indicating a predisposition to developing symptoms of the class of dystonia and/or Leber's Hereditary Optic Neuropathy in the subject.
Dependencies are inferred from the claim text.