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Prenatal administration of Coenzyme Q10 prevents muscle dysfunction in mitochondrial diseases

A study reveals that prenatal administration of Coenzyme Q10 prevents muscle dysfunction in mitochondrial diseases.

A scientific team from the Andalusian Center for Developmental Biology and King's College London highlights the importance of early treatment to avoid muscle deterioration, improving the quality of life of those affected.


A recent study carried out by a research team from the Andalusian Center for Developmental Biology (a joint center of the Pablo de Olavide University, the Spanish National Research Council and the Andalusian Regional Government) and King's College London, has revealed that prenatal supplementation with Coenzyme Q10 (CoQ10) can prevent muscle dysfunction in mitochondrial diseases. This finding represents a promising advance in the treatment of degenerative skeletal muscle pathologies and could significantly improve the quality of life of those affected.

The study, published in the Journal of Cachexia, Sarcopenia and Muscle, used an animal model that presents the same genetic mutation that affects human patients with Coenzyme Q deficiency, produced by an alteration in the Adck2 gene.
The research group observed that mice with this mutation showed defects in embryonic development, reduced body size and muscle problems, such as loss of structure and decreased function, which worsened with age. In addition, the capacity for mitochondrial respiration in the muscle of these mice was also diminished, with a consequent loss in the ability to obtain energy. However, prenatal administration of CoQ10 was able to prevent this damage, allowing the animals to age without showing signs of muscle dysfunction.
The results thus demonstrated that CoQ10 not only protects muscle development from the embryonic stage, but also preserves muscle function throughout life, preventing the deterioration associated with aging.

Early diagnosis and prenatal intervention, key to tackling these diseases

The only current treatment for patients with Coenzyme Q deficiency is oral administration of CoQ10, which offers only partial recovery if treatment is initiated after the onset of symptoms. This underlines the importance of early diagnosis and prenatal intervention, as Dr. Daniel José Moreno Fernández-Ayala, professor at the UPO and co-author of the study, states: “This work shows that prevention from the beginning of development is key to avoid the accumulation of irreversible damage in the muscles”.

Thanks to the use of the animal model, it has been possible to study muscle structure, function and regeneration at all stages of life, as well as the use of different strategies to combat this disease. “The novelty of this study is that the pathological phenotype is described in depth throughout the animal's life, from embryonic development to old age, including the asymptomatic stages of adult life before the appearance of the first symptoms. This has allowed us to establish in a timeline where and when the damage occurs, the progress of the disease and how the development, growth and aging of the animal is affected in this pathological situation,” explains Dr. Daniel José Moreno Fernández-Ayala.

As with degenerative diseases in humans, the mutant phenotype of this mouse becomes evident when the animal reaches adulthood and the accumulation of muscle damage prevents it from leading a normal life. And just as with the treatment of these diseases in humans, the effectiveness is not very high if it is started once the mutant phenotype has become evident, precisely because of the accumulation of structural damage in the muscle that the treatment cannot reverse.

Thus, the research team highlights the importance of the work taking into account two fundamental aspects: first, that muscle damage begins in embryonic development and accumulates during the asymptomatic stages of the animal's life; and second, that prenatal and progressive treatment with Coenzyme Q10 prevents metabolic and structural alterations from the onset of the disease in embryonic development, so that as no damage occurs or accumulates, the animal reaches adulthood and ages without showing signs of the disease.

This innovative study, which is part of Juan Diego Hernández-Camacho's doctoral thesis directed by Professor Moreno Fernández-Ayala (UPO) and Jaime Carvajal (CSIC), marks an important advance in the search for effective treatments against mitochondrial diseases, and could open the door to new preventive strategies to improve the quality of life of those affected by these pathologies.

Juan Diego Hernández-Camacho, Cristina Vicente-García, Lorena Ardila-García, Ana Padilla-Campos, Guillermo López-Lluch, Carlos Santos-Ocaña, Peter Zammit, Jaime Carvajal, Plácido Navas, Daniel José Moreno Fernández-Ayala. Prenatal and progressive coenzyme Q10 administration to mitigate muscle dysfunction in mitochondrial disease. Journal of Cachexia, Sarcopenia and Muscle (2024). https://doi.org/10.1002/jcsm.13574

This press release was written in collaboration with the Communications department at UPO