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ECHS1: pathogenic mechanisms, experimental models, and emerging therapeutic strategies
Qiang Fu1,2, Rui Qiu1,2, Shang Li3
1Center on Translational Neuroscience, Institute of National Security, Minzu University of China, 27th South Zhongguancun Avenue, Beijing, 100081, China.
Orphanet Journal of Rare Diseases
|August 13, 2025
Summary
The ECHS1 gene is vital for energy production and metabolism. Mutations cause mitochondrial dysfunction, leading to rare metabolic and neurodegenerative diseases, necessitating new research and therapies.
Area of Science:
- Biochemistry
- Genetics
- Cell Biology
Background:
- The ECHS1 (short-chain enoyl-CoA hydratase 1) gene is essential for mitochondrial fatty acid beta-oxidation and branched-chain amino acid metabolism.
- ECHS1 gene mutations are linked to severe mitochondrial dysfunction and rare metabolic/neurodegenerative disorders.
Purpose of the Study:
- To review the molecular roles of ECHS1 in energy metabolism, oxidative stress, and apoptosis.
- To evaluate experimental models and therapeutic strategies for ECHS1-related disorders.
Main Methods:
- Literature review of ECHS1's functions, genetic mutations, and associated disorders.
- Analysis of various experimental models (mouse, Drosophila, iPSC) for studying ECHS1.
- Critical evaluation of current and potential therapeutic interventions.
Main Results:
- ECHS1 plays a key role in cellular energy homeostasis and mitochondrial function.
- Experimental models have advanced understanding but possess limitations.
- Therapeutic approaches show promise but face challenges.
Conclusions:
- Further research is needed to understand ECHS1's tissue-specific and developmental roles.
- Development of advanced, human-relevant models is crucial.
- Integrative technologies are required for personalized ECHS1 disorder treatments.
