20240050440. THERAPEUTIC TARGETS AND AGENTS FOR THE TREATMENT OF TRIOSEPHOSPHATE ISOMERASE (TPI) DEFICIENCY simplified abstract (University of Pittsburgh- Of The Commonwealth System of Higher Education)

THERAPEUTIC TARGETS AND AGENTS FOR THE TREATMENT OF TRIOSEPHOSPHATE ISOMERASE (TPI) DEFICIENCY

Organization Name

University of Pittsburgh- Of The Commonwealth System of Higher Education

Inventor(s)

Michael John Palladino of Pittsburgh PA (US)

Stacy Lynn Hrizo of Cranberry Township PA (US)

Andreas Vogt of Pittsburgh PA (US)

THERAPEUTIC TARGETS AND AGENTS FOR THE TREATMENT OF TRIOSEPHOSPHATE ISOMERASE (TPI) DEFICIENCY - A simplified explanation of the abstract

This abstract first appeared for US patent application 20240050440 titled 'THERAPEUTIC TARGETS AND AGENTS FOR THE TREATMENT OF TRIOSEPHOSPHATE ISOMERASE (TPI) DEFICIENCY

Simplified Explanation

The abstract describes a patent application for the treatment of triosephosphate isomerase deficiency (TPI DF), a childhood degenerative disease, by promoting stability of the TPI protein. The patent application includes a genome-wide RNAi screen to identify regulators of TPI stability and the use of agents that inhibit expression or activity of these regulators to treat TPI DF. The application also describes methods for identifying agents that promote stability of mutant TPI and treating TPI DF by administering these agents.

• The patent application aims to treat TPI DF, a devastating childhood degenerative disease, for which there are currently no treatments.
• The pathogenesis of TPI DF is driven by mutations that destabilize the TPI protein.
• A genome-wide RNAi screen was conducted to identify 25 critical proteins that regulate TPI stability, each having a human ortholog.
• The patent application proposes administering an agent that inhibits expression or activity of one of the identified regulators to promote TPI protein stability and treat TPI DF.
• The application also describes methods for identifying agents that promote stability of mutant TPI, which can be used to treat TPI DF.
• Potential applications of this technology include the development of therapeutic interventions for TPI DF.
• The technology solves the problem of TPI DF, a currently untreatable childhood degenerative disease, by targeting the destabilization of the TPI protein.
• The benefits of this technology include the potential to provide a treatment for TPI DF, improving the quality of life for affected individuals.

Original Abstract Submitted

triosephosphate isomerase deficiency (tpi df) is a devastating childhood degenerative disease for which there are currently no treatments. pathogenesis of this disease is driven by mutations that destabilize the tpi protein. a genome-wide rnai screen in to identify regulators of tpi stability is described. the screen identified 25 proteins that are critical to tpi stability, each of which has a human ortholog. methods of promoting tpi protein stability and treating tpi df in a subject by administering a therapeutically effective amount of an agent that inhibits expression or activity of one of the identified regulators are described. also described is a method for the identification of agents capable of promoting stability of mutant tpi. methods for treating a subject who has tpi df by administering an agent that promotes stability of mutant tpi is also described.