Biochemical Assessment of Coenzyme Q10 Deficiency

Rodríguez-Aguilera, Juan Carlos; Cortés, Ana; Navas, Plácido

doi:10.3390/jcm6030027

Cited by 45 publications

(38 citation statements)

References 60 publications

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“…The vials were closed immediately after plasma transfer, kept frozen at −80 • C, and sent on dry ice to the laboratory, where they were stored at −80 • C until analysis. The quantification of ubiquinone and ubiquinol in plasma was conducted in a biomedical laboratory at the Pablo de Olavide University (Seville, Spain) in line with previously described protocols [22] that were modified as follows: 125 µL plasma was mixed with 450 µL of ice cold 2-propanol containing 10 ppm (v/v) 2-mercaptoethanol (to scavenge residual oxygen during the extraction of lipid-soluble CoQ10 and to precipitate proteins). Coenzyme Q8 (100 pmol) was used as an external standard to normalize CoQ10 recovery and to confirm the unaltered redox status due to residual 2-mercaptoethanol.…”

Section: Blood Sample Preparation and Analytical Proceduresmentioning

confidence: 99%

Comparative Bioavailability of Different Coenzyme Q10 Formulations in Healthy Elderly Individuals

et al. 2020

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Coenzyme Q10 (CoQ10) plays a central role in mitochondrial oxidative phosphorylation. Several studies have shown the beneficial effects of dietary CoQ10 supplementation, particularly in relation to cardiovascular health. CoQ10 biosynthesis decreases in the elderly, and consequently, the beneficial effects of dietary supplementation in this population are of greater significance. However, most pharmacokinetic studies have been conducted on younger populations. The aim of this study was to investigate the single-dose bioavailability of different formulations of CoQ10 in a healthy geriatric population. A randomized, three-period, crossover bioavailability study was conducted on 21 healthy older adults (aged 65–74). The treatment was a single dose with a one-week washout period. Three different formulations containing the equivalent of 100 mg of CoQ10 were used: Q10Vital® water-soluble CoQ10 syrup (the investigational product—IP); ubiquinol capsules (the comparative product—CP); and ubiquinone capsules (the standard product—SP). Ubiquinone/ubiquinol was followed in the plasma for 48 h. An analysis of the ratio of the area under the baseline-corrected concentration curve (ΔAUC48) for total CoQ10 and a comparison to SP yielded the following: The bioavailability of CoQ10 in the IP was 2.4-fold higher (95% CI: 1.3–4.5; p = 0.002), while the bioavailability of ubiquinol (CP) was not significantly increased (1.7-fold; 95% CI: 0.9–3.1, p = 0.129). No differences in the redox status of the absorbed coenzyme Q10 were observed between formulations, showing that CoQ10 appeared in the blood mostly as ubiquinol, even if consumed as ubiquinone.

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Section: Blood Sample Preparation and Analytical Proceduresmentioning

confidence: 99%

Comparative Bioavailability of Different Coenzyme Q10 Formulations in Healthy Elderly Individuals

et al. 2020

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“…Complex III (ubiquinol cytochrome c oxidoreductase) activity was measured by following the CoQ content and the ratio of the reduced vs. oxidized forms were measured as described 59 .…”

Section: Mitochondrial Respiratory Chain Enzyme Analysis and Coq Detementioning

confidence: 99%

Parl Deficiency in Mouse Causes Coenzyme Q Depletion, Complex III Defects, and Leigh-like Syndrome

Spinazzi

Radælli

Horré

et al. 2018

Preprint

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The mitochondrial intramembrane rhomboid protease Parl has been implicated in diverse functions in vitro, but its physiological role in vivo remains unclear. Here we show that Parl ablation in mouse causes a striking necrotizing encephalomyelopathy similar to Leigh syndrome, a mitochondrial disease characterized by disrupted energy production. Mice with conditional Parl deficiency in the nervous system, but not in muscle, develop a similar phenotype as germline Parl knockouts demonstrating the vital role of Parl in neurological homeostasis. Genetic modification of two major Parl substrates, Pink1 and Pgam5, do not modify this severe neurological phenotype. Parl -/brain mitochondria are affected by defects in Complex III activity and in coenzyme Q biosynthesis. Parl is necessary for the stable expression of Ttc19, required for Complex III activity, and of Coq4, essential in coenzyme Q biosynthesis. Thus, Parl plays a previously overseen constitutive role in the maintenance of the respiratory chain in the nervous system, and its deficiency causes progressive mitochondrial dysfunction and Leigh-like syndrome.

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“…It is important to note that biochemical analysis is not able to distinguish between primary and secondary CoQ deficiencies(127). Genetic identification of new pathogenic variants is usually followed by functional validation.CoQ levels can also be measured on plasma samples, white blood cells or skin fibroblasts obtained after skin biopsy from patients(128). 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.…”

mentioning

confidence: 99%

Clinical syndromes associated with Coenzyme Q10 deficiency

Alcázar-Fabra

Trevisson

Brea-Calvo

2018

Essays in Biochemistry

124

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Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level. The associated clinical manifestations are highly heterogeneous and mainly affect central and peripheral nervous system, kidney, skeletal muscle and heart. Genotype-phenotype correlations are difficult to establish, mainly because of the reduced number of patients and the large variety of symptoms. In addition, mutations in the same gene can cause different clinical pictures. Here, we present an updated and comprehensive review of the clinical manifestations associated with each of the pathogenic variants causing primary CoQ deficiencies.

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Biochemical Assessment of Coenzyme Q10 Deficiency

Cited by 45 publications

References 60 publications

Comparative Bioavailability of Different Coenzyme Q10 Formulations in Healthy Elderly Individuals

Comparative Bioavailability of Different Coenzyme Q10 Formulations in Healthy Elderly Individuals

Parl Deficiency in Mouse Causes Coenzyme Q Depletion, Complex III Defects, and Leigh-like Syndrome

Clinical syndromes associated with Coenzyme Q10 deficiency

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