Compositions and methods for treatment of mitochondrial respiratory chain dysfunction and other mitochondrial disorders
AssigneeThe Children's Hospital of Philadelphia
InventorsMarni J. Falk, Eiko Nakamaru-Ogiso
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Abstract
Compositions and methods for treatment of mitochondrial respiratory chain dysfunction and other mitochondrial disorders are provided. Also disclosed are a number of screening assays having utility for the identification of agents which modulate the phenotype associated with mitochondrial respiratory chain dysfunction.
Claims22
A composition having efficacy for the treatment of mitochondrial disease, comprising effective amounts of one or more of glucose, N-acetylcysteine, nicotinic acid, probucol, and cysteamine bitartrate, in a pharmaceutically acceptable carrier.
7-24. (canceled)
A high pressure liquid chromatography—electron chemical detection (HPLC-ECD) assay for accurate quantitation of reduced GSH and oxidized GSSG glutathione levels in a biological sample, comprising:
- a) obtaining a biological sample to be tested;
- b) contacting said sample with an extraction buffer and optionally, a detergent, and homogenizing said sample;
- c) centrifuging said homogenized sample and removing any cellular debris;
- d) deproteinizing said sample and collecting supernatant;
- e) subjecting said sample to HPLC-ECD, thereby quantifying said reduced GSH and oxidized GSSG glutathione levels in said sample.
29-32. (canceled)
A preclinical method for identifying mitochondrial disease subjects likely to respond to treatment for mitochondrial dysfunction, comprising:
- a) provide patient cell lines or cells from said subject, said subject having a predetermined genotype;
- b) contacting said cells with at least one agent;
- c) culturing said cells under normal and stressed growth conditions, wherein said stressor is applied in increasing concentrations;
- d) determining the protective effects of said agent on said cells, agents having protective action being effective in subjects having said predetermined genotype.
A composition having efficacy for the treatment of mitochondrial disease, comprising effective amounts of probucol in a pharmaceutically acceptable carrier.
Dependencies are inferred from the claim text.