Keep the fire burning: Current avenues in the quest of treating mitochondrial disorders

Area of Science:

• Biochemistry
• Genetics
• Pharmacology

Background:

• Mitochondrial diseases exhibit significant genetic and clinical heterogeneity.
• Despite diagnostic progress, effective treatments for mitochondrial diseases remain elusive.
• Current research focuses on diverse intervention points for therapeutic development.

Purpose of the Study:

• To review current advancements in the treatment of mitochondrial diseases.
• To assess the potential and readiness of emerging therapies for clinical application.
• To highlight the role of OXPHOS disorder mouse models in therapeutic validation.

Main Methods:

• Literature review of experimental therapeutic strategies.
• Analysis of data from preclinical studies, including mouse models.
• Evaluation of the transition status from research to clinical use.

Main Results:

• Multiple experimental therapeutic strategies are under investigation globally.
• Availability of numerous mouse models facilitates optimization and validation of treatments.
• Progress is being made in translating research findings towards clinical application.

Conclusions:

• While challenges in mitochondrial disease treatment persist, significant research efforts are underway.
• Mouse models are crucial for advancing therapeutic strategies and preparing for clinical trials.
• The transition of novel treatments into clinical practice is a key focus of ongoing research.