Use of guaiacol for the prevention and treatment of glycogen storage disease
AssigneesThe Trustees of Couumbia University in the City of New York, Hadasit Medical Research Services and Development Ltd.
InventorsHasan Orhan AKMAN, Salvatore DIMAURO, Or KAKHLON
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Abstract
The current invention is a method of preventing and treating certain diseases by preventing the synthesis and/or breakdown of glycogen by the administration of an agent, guaiacol. Diseases that can be prevented and treated by the administration of guaiacol include but are not limited to glycogen storage disease type IV (GSD-IV), adult polyglucosan body disease (APBD), and Lafora disease (LD). The invention also includes methods and tools for screening for agents that prevent and treat these diseases as well as basic research, specifically in the form of cells and cell lines that produce detectable polyglucosan.
Claims22
A method of treating and/or preventing a disease selected from a glycogen storage disease, a disease or disorder characterized by polyglucosan accumulation or abnormal glycogen accumulation, Lanora disease and diabetes, the method comprising administering to a subject in need thereof a therapeutically effective amount of guaiacol.
-33. (canceled)
A method for screening or identifying an agent for the prevention and/or treatment of a disease or disorder characterized by accumulation of polyglucosan, comprising:
- a. detecting or measuring polyglucosan accumulation in a cell or cells derived from a mouse that is heterozygous for the GBE1 mutation;
- b. contacting or incubating a test agent with the cell or cells with a test agent;
- c. detecting or measuring the polyglucosan accumulation after contact or incubation with the test agent,
- wherein if the polyglucosan accumulation in the cells detected or measured in step (c) is reduced, decreased or less than the polyglucosan accumulation in the cells detected or measured in step (a), the test agent is identified as a preventative and/or therapeutic agent for a disease or disorder characterized by polyglucosan accumulation.
A cell or cell line derived from a mouse with the genotype GBE1−/neo, wherein the cell is an embryonic fibroblast cells that accumulates polyglucosan.
(canceled)
Dependencies are inferred from the claim text.