Mitochondria, often referred to as the powerhouses of the cell, rely on coenzyme Q10 (CoQ10) to function properly. However, individuals with primary CoQ10 deficiencies, a rare genetic disorder, face severe health issues due to their inability to produce enough CoQ10.
A recent study published in Nature reveals a breakthrough discovery that could potentially treat this condition. Researchers found that providing CoQ10 precursor molecules, specifically 4-hydroxymandelate (4-HMA) and its metabolite 4-hydroxybenzoate (4-HB), can improve neurological symptoms in patients with primary CoQ10 deficiency.
The treatment was tested on mice models of neurodevelopmental disorders and showed remarkable results, with over 85% of the treated animals surviving for over a year. In a clinical trial, an eight-year-old boy suffering from this condition experienced significant improvement in his motor functions, including improved endurance, balance, and reduced muscle stiffness.
The researchers believe that providing CoQ10 precursor molecules could be a game-changer for treating primary CoQ10 deficiency and other related diseases. While the study’s findings are promising, it is essential to note that further research is needed to fully understand the effects of this treatment.
“The data from the mice and the data from the patient suggest that we have something to offer,” said Michael Pacold, a radiation oncologist at New York University Langone Health. “We’re grateful for the opportunity to explore new treatments and improve lives.”
The researchers plan to conduct further clinical trials to confirm the efficacy of this treatment and expand its potential applications to other patients with CoQ10 deficiency.
Source: https://www.the-scientist.com/coenzyme-q10-precursors-reverse-motor-decline-in-a-young-patient-73148