Coenzyme Q10 (abbreviated as CoQ10) is essential for the performance of mitochondria. It acts as an antioxidant and serves as an important cofactor in the electron transport chain, so its deficiency can manifest in the form of muscle weakness, cardiomyopathy, and other neurological disorders. Protheragen, a foremost preclinical service provider focused on mitochondrial diseases, is committed to furthering research and development in CoQ10 deficiency therapy.
Introduction to Co-Enzyme Q10 Deficiency
A deficiency in CoQ10 can be categorized as either primary or secondary. CoQ10 serves as an antioxidant and a lipid component in the electron transport chain. The primary deficiencies of CoQ10 relate to pathogenic variants in genes involved in its biosynthesis, leading to manifestations such as steroid-resistant nephrotic syndrome, encephalopathy, seizures and ataxia, myopathy, sensorineural hearing loss, spasticity, dystonia and many more. The secondary dysfunction of CoQ10 may arise in other respiratory chain disorders.
Fig.1 The potential factors responsible for a secondary CoQ10 deficiency. (Mantle, D., et al., 2022)
Research Progress of Co-Enzyme Q10 Deficiency
Recent studies have aimed to gain insights into the genetics, pathophysiology, and clinical manifestations of CoQ10 deficiency in order to elucidate the mechanisms underlying impaired mitochondrial function and its association with other diseases.
Novel Diagnostic Methods of Co-Enzyme Q10 Deficiency
Gaps in the early detection and accuracy of CoQ10 deficiency are expected to improve with the advent of newer and more complex diagnostic tools. Diagnosis of respiratory chain defects is aided by molecular methods like whole-exome or genome sequencing and mitogenome sequencing. This step facilitates a more thorough analysis of the interrelationship between the molecular genotype, phenotype, and muscle CoQ10 levels.
Novel Therapies of Co-Enzyme Q10 Deficiency
At this stage, there are no available therapeutics; nonetheless, researchers are actively trying to develop new therapeutic methods, such as CoQ10 supplementation therapy, or gene therapy. Gene therapy's goal is to improve CoQ10 deficiency by increasing the endogenous CoQ10 synthesis or CoQ10 transportation within the body.
Our Services
Protheragen provides advanced research services on CoQ10 deficiency utilizing the most modern approaches, including providing state-of-the-art solutions and addressing the prominent challenges associated with the condition.
Our Advantages
With CoQ10 deficiency as one of our primary focuses, Protheragen is committed to progressing research and innovation in the field of mitochondrial diseases The scope of our services is expansive, please contact us to see in what other ways we can assist you with your research.
Reference
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Mantle, D.; et al. (2022). Depletion and Supplementation of Coenzyme Q10 in Secondary Deficiency Disorders. Frontiers in bioscience (Landmark edition), 27(12), 322.
