The Value of Coenzyme Q10 Determination in Mitochondrial Patients

Abstract

Coenzyme Q10 (CoQ) is a lipid that is ubiquitously synthesized in tissues and has a key role in mitochondrial oxidative phosphorylation. Its biochemical determination provides insight into the CoQ status of tissues and may detect CoQ deficiency that can result from either an inherited primary deficiency of CoQ metabolism or may be secondary to different genetic and environmental conditions. Rapid identification of CoQ deficiency can also allow potentially beneficial treatment to be initiated as early as possible. CoQ may be measured in different specimens, including plasma, blood mononuclear cells, platelets, urine, muscle, and cultured skin fibroblasts. Blood and urinary CoQ also have good utility for CoQ treatment monitoring.

Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples

“…At present, CoQ treatment monitoring is a matter of debate. CoQ distribution from the serum to cells and tissues after oral intake is not fully understood, and the best biological sample to monitor patients under CoQ supplementation is currently under discussion [ 6 ]. Furthermore, different CoQ formulations are available with potentially different bio availabilities, depending on whether the CoQ is in the oxidized or the reduced form and what excipients are used [ 7 ].…”

Clinical syndromes associated with Coenzyme Q10 deficiency

“…However, there are concerns about CoQ plasma measurements for diagnosis, since it seems to be influenced by the amount of plasma lipoproteins (carriers of CoQ in circulation) and the dietary intake. Muscle or fibroblasts represent the preferred diagnosis tissues, although sometimes fibroblasts do not show reduction while muscle does(129).It has been shown that white blood cells CoQ levels alone are not reliable to diagnose primary CoQ deficiency in the setting of nephrotic syndrome(76).…”

Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era

“…In presence of variants of uncertain significance, functional and/or complementary studies are needed. Blood mononuclear cells represent a readily accessible sample, which is often suitable as an alternative to muscle for the measurement of CoQ 10 , by high performance liquid chromatography or mass spectrometry [11,58] . In contrast, plasma levels of CoQ 10 are influenced by the amount of plasma lipoproteins (carriers of CoQ 10 in circulation), dietary intake, or supplementation, therefore cannot be used for diagnostic purpose.…”