Plasma coenzyme Q10 status is impaired in selected genetic conditions

Abstract

Identifying diseases displaying chronic low plasma Coenzyme Q10 (CoQ) values may be important to prevent possible cardiovascular dysfunction. The aim of this study was to retrospectively evaluate plasma CoQ concentrations in a large cohort of pediatric and young adult patients. We evaluated plasma CoQ values in 597 individuals (age range 1 month to 43 years, average 11 years), studied during the period 2005–2016. Patients were classified into 6 different groups: control group of healthy participants, phenylketonuric patients (PKU), patients with mucopolysaccharidoses (MPS), patients with other inborn errors of metabolism (IEM), patients with neurogenetic diseases, and individuals with neurological diseases with no genetic diagnosis. Plasma total CoQ was measured by reverse-phase high-performance liquid chromatography with electrochemical detection and ultraviolet detection at 275 nm. ANOVA with Bonferroni correction showed that plasma CoQ values were significantly lower in the PKU and MPS groups than in controls and neurological patients. The IEM group showed intermediate values that were not significantly different from those of the controls. In PKU patients, the Chi-Square test showed a significant association between having low plasma CoQ values and being classic PKU patients. The percentage of neurogenetic and other neurological patients with low CoQ values was low (below 8%). In conclusión, plasma CoQ monitoring in selected groups of patients with different IEM (especially in PKU and MPS patients, but also in IEM under protein-restricted diets) seems advisable to prevent the possibility of a chronic blood CoQ suboptimal status in such groups of patients.

Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples

“…Regarding the quantitative CoQ values in the different samples ( Table 1 ), the concentration observed at baseline for group 1 was in agreement with our previous reference values and those reported by other authors [ 15 , 18 , 20 , 22 , 23 , 24 ].…”

“…** Reference values reported in the literature by other groups. A good agreement was observed with data from subjects at baseline (group 1) and also with our own reference values [ 18 , 20 , 24 ]. Abbreviations: BMCs, blood mononuclear cells; Chol, total plasma cholesterol; CoQ, coenzyme Q10.…”

“…Plasma was the best sample for monitoring, either analyzing total CoQ values or values relative to Chol, a molecule closely related to CoQ biosynthesis [ 20 ]. All 11 participants increased their plasma CoQ values after CoQ supplementation.…”

Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review

“…Therefore, lysosomal acidification requires functioning mitochondria to provide the requisite ATP for this process, although no studies as far as the authors are aware have reported lysosomal dysfunction in patients with primary mitochondrial defects. However, a deficiency in the mitochondrial respiratory chain (MRC) electron carrier, coenzyme Q10 (CoQ10) has been reported in Mucopolysaccharidosis (MPS) patients [11]. In addition to impairing oxidative phosphorylation and depriving the V-ATPase of a source of ATP, a deficit in CoQ10 may also compromise the function of the lysosomal respiratory chain that is also required for maintaining the acidity of this organelle [10].…”

“…In the lysosomal respiratory chain CoQ10 functions as both an electron and proton carrier [10]. In view of the reported susceptibility of the lysosome to oxidative stress (OS) induced impairment, the antioxidant function of CoQ10 may also offer some protection to this organelle from free radical induced oxidation [10,11].…”