Substrate-enhancement therapy for mitochondrial metabolism modulation
A novel substrate-enhancement therapy using 4-hydroxybenzoic acid (4HB) to stimulate COQ2 enzyme activity, improving mitochondrial function in genetic disorders. This approach compensates for enzyme deficiencies, offering potential treatment for related pathologies.
Overview
The proposed solution involves a substrate-enhancement therapy that utilizes 4-hydroxybenzoic acid (4HB) to modulate mitochondrial metabolism. This approach targets the COQ2 enzyme, which plays a critical role in the Coenzyme Q (CoQ) biosynthetic pathway, essential for mitochondrial function. By increasing the substrate concentration of 4HB, the therapy aims to stimulate COQ2 activity, thereby enhancing CoQ levels and improving mitochondrial performance. This method holds promise for treating genetic disorders where enzyme deficiencies impact mitochondrial function.
Technical specifications
Key features:
- Utilizes 4-hydroxybenzoic acid (4HB) as a substrate to enhance COQ2 enzyme activity
- Targets mitochondrial metabolism by improving CoQ biosynthesis
- Potential to rescue enzymatic activity in cases involving pathogenic genetic variants
- Demonstrated efficacy in Coq2A252V mouse models, showing rescue of perinatal lethality
Applications:
- Treatment of genetic disorders affecting mitochondrial function
- Potential therapeutic strategy for conditions caused by enzyme deficiencies
Technology readiness level
The technology is currently at TRL 4, indicating that the therapy has been validated in laboratory settings using animal models. Future validation steps include long-term therapeutic studies, dose-response assessments, and safety evaluations to further advance the readiness level.
About University of Granada
Founded in 1531, the University of Granada is a large, comprehensive public research university enrolling over 60,000 students across campuses in Granada, Ceuta and Melilla. Its Health Sciences Technology Park (PTS) co‑locates university institutes, hospitals and companies, providing shared facilities, incubation and support that enable clinical translation and partnerships at scale. A dedicated Knowledge Transfer Office (OTRI) structures collaboration agreements, contract research and IP, and runs a spin‑off incubator in the University’s Technology Transfer Center. Research is supported by competitive European Union, national and regional funding, with active participation in Horizon programmes and other international calls.
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