Detection of mitochondrial DNA mutation 14459 associated with dy

Details Detection of mitochondrial DNA mutation 14459 associated with dy Detection of mitochondrial DNA mutation 14459 associated with dy

1994-11-14

1997-09-23

Marschel, Ardin H.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 71, 435 72, 435291, 435287, 536 243, 536 2431, 536 2432, 536266, C12Q 168, G01N 3353, C12M 100, C07H 2102

Patent

active

056703201

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.

REFERENCES:
Jun et al. "A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia" Proc. Natl. Acad. Sci. USA vol. 91, pp. 6206-6210, 1994.
Novotny, et al., "Leber's disease and dystonia: A mitochondrial disease," Neurology 36(8):1053-1060 (Aug., 1986).
Wallace, Douglas C., "Diseases of the Mitochondrial DNA," Annu. Rev. Biochem. 1992 61:1175-1212 (1992).
Shoffner, et al., "Subacute necrotizing encepalopathy: Oxidative phosphorylation defects and the ATPase 6 point mutation," Neurology 42(11):2168-2174 (Nov., 1992).
Johns, et al., "Leber's Hereditary Optic Neuropathy," Arch. Ophthalmol. 111:495-498 (Apr., 1993).
Brown, et al., "Mitochondrial DNA Complex I and III Mutations Associated with Leber's Hereditary Optic Neuropathy," Genetics 130:163-173 (Jan., 1992).
Brown, et al., "Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases," FASEB J. 6:2791-2799 (Jul., 1992).

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