Coenzyme Q10 Deficiency

A rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (UBIQUINONE). There are five major phenotypes: an encephalomyopathic form with SEIZURES and ATAXIA ; a multisystem infantile form with encephalopathy, CARDIOMYOPATHY and RENAL FAILURE; a predominantly cerebellar form with ataxia and cerebellar atrophy; LEIGH SYNDROME with growth retardation; and an isolated myopathic form. The molecular disease mechanism remains unknown, but mutations in a number of genes have been identified, OMIM: 607426

Also Known As:

Networked: 144 relevant articles (5 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Mitochondrial encephalopathy
2.	Mitochondrial Diseases (Mitochondrial Disease)
3.	Cerebellar Ataxia (Dysmetria)
4.	Mitochondrial Myopathies (Mitochondrial Myopathy)
5.	Muscular Diseases (Myopathy)

Experts

1.	Navas, Plácido: 15 articles (11/2021 - 07/2006)
2.	Salviati, Leonardo: 13 articles (01/2021 - 02/2006)
3.	Artuch, Rafael: 13 articles (09/2019 - 07/2006)
4.	Quinzii, Catarina M: 11 articles (01/2021 - 03/2008)
5.	Finsterer, Josef: 8 articles (12/2020 - 09/2009)
6.	Hirano, Michio: 8 articles (03/2013 - 02/2006)
7.	López, Luis C: 7 articles (04/2019 - 05/2009)
8.	Navas, Placido: 7 articles (01/2019 - 02/2006)
9.	Montero, Raquel: 7 articles (01/2018 - 01/2007)
10.	DiMauro, Salvatore: 7 articles (01/2016 - 12/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Coenzyme Q10 Deficiency:

1.	coenzyme Q10 (CoQ10)IBA 01/01/2022 - "The efficacy of coenzyme Q10 treatment in alleviating the symptoms of primary coenzyme Q10 deficiency: A systematic review." 03/25/2013 - "Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies." 03/01/2008 - "The established methods and measured data might be a helpful contribution for estimating coenzyme Q10 deficiency and for planning therapeutical studies with coenzyme Q10 in childhood." 01/01/2021 - "Given that some features of primary coenzyme Q10 deficiency may improve with exogenous COQ10 , early diagnosis is very important." 10/01/2020 - "Primary coenzyme Q10 deficiency refers to a group of diseases characterised by reduced levels of coenzyme Q10 in related tissues or cultured cells associated with the 9 genes involved in the biosynthesis of coenzyme Q10. "
2.	UbiquinoneIBA 01/01/2020 - "Given that the associated clinical manifestations of ubiquinone (UQ, or coenzyme Q) deficiency diseases are highly heterogeneous and complicated, effective new research tools for UQ homeostasis studies are awaited. " 01/01/2021 - "The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency." 10/01/2019 - "Primary CoQ deficiency occurs because of the defective biosynthesis of coenzyme Q, one of the key components of the mitochondrial electron transport chain. " 01/01/2019 - "Coenzyme Q (CoQ) deficiency has been associated with primary defects in the CoQ biosynthetic pathway or to secondary events. " 12/01/2018 - "Primary coenzyme-Q deficiency responds favorably to coenzyme-Q supplementation. "
3.	ubiquinone 7IBA 11/01/2015 - "We report the first patient with primary coenzyme Q deficiency due to a homozygous COQ7 mutation and a potentially beneficial treatment using 2,4DHB." 10/03/2023 - "Distal hereditary motor neuropathy caused by coenzyme Q deficiency due to COQ7 variants." 11/01/2015 - "Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid." 03/15/2013 - "The lack of a functional Coq9 protein in homozygous Coq9 mutant (Coq9(X/X)) mice causes a severe reduction in the Coq7 protein and, as consequence, a widespread CoQ deficiency and accumulation of demethoxyubiquinone. "
4.	Probucol (Lorelco)FDA Link 07/01/2011 - "Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice." 07/01/2011 - "Rather, decreased CoQ(9) content and altered PPAR pathway signaling appear, respectively, to orchestrate the glomerular and global metabolic consequences of primary CoQ deficiency, which are both preventable and treatable with oral probucol therapy." 07/01/2011 - "Here, we show that focal segmental glomerulopathy-like kidney disease in Pdss2 mutant animals with primary coenzyme Q (CoQ) deficiency is significantly ameliorated by oral treatment with probucol (1% w/w). " 03/01/2010 - "Liver RNA from B6.Alb/cre,Pdss2(loxP/loxP) mice having primary coenzyme Q deficiency was extracted either at baseline or following treatment with an antioxidant/antihyperlipidemic agent, probucol. "
5.	ubiquinol-10IBA 07/01/2014 - "Ubiquinol-10 ameliorates mitochondrial encephalopathy associated with CoQ deficiency." 01/01/2013 - "Increased oxidative stress and coenzyme Q10 deficiency in juvenile fibromyalgia: amelioration of hypercholesterolemia and fatigue by ubiquinol-10 supplementation." 01/01/2013 - "However, plasma level of ubiquinol-10 was significantly decreased and the ratio of ubiquinone-10 to total coenzyme Q10 (%CoQ10) was significantly increased in juvenile FM relative to healthy controls, suggesting that FM is associated with coenzyme Q10 deficiency and increased oxidative stress. "
6.	ubiquinone 9IBA 01/28/2020 - "A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation." 04/01/2018 - "Lethal Neonatal CoQ Deficiency due to a COQ9 Variant." 01/01/2018 - "A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9." 05/01/2015 - "Coq9(R239X) mice manifest severe widespread CoQ deficiency associated with fatal encephalomyopathy and respond to 2,4-diHB increasing CoQ levels. " 05/01/2015 - "The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene."
7.	Proteins (Proteins, Gene)FDA Link 01/01/2022 - "Although our data provide further evidence of a link between fragile X mental retardation protein (FMRP) and CoQ biosynthesis, the results highlight the importance of CoQ in developing tissues and suggest tissue-specific differences from CoQ deficiency. " 01/01/2019 - "CoQ requires a large set of enzymes for its biosynthesis; mutations in genes encoding these proteins cause primary CoQ deficiency, a clinically and genetically heterogeneous group of diseases. " 03/15/2013 - "Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency." 11/01/2018 - "We conclude that kidney failure in CoQ deficiency-associated NS is caused by oxidative stress mediated by impaired sulfides oxidation and propose that CoQ supplementation does not significantly increase the kidney pool of CoQ bound to the respiratory supercomplexes, but rather enhances the free pool of CoQ, which stabilizes SQOR protein levels rescuing oxidative stress." 03/15/2013 - "The lack of a functional Coq9 protein in homozygous Coq9 mutant (Coq9(X/X)) mice causes a severe reduction in the Coq7 protein and, as consequence, a widespread CoQ deficiency and accumulation of demethoxyubiquinone. "
8.	MicroRNAs (MicroRNA)IBA 04/16/2023 - "We selected 77 studies, enlightening 12 potential disease-specific or non-disease-specific pathogenetic mechanisms, namely: impaired substrate delivery to TCA cycle and TCA dysfunction, secondary mitochondrial electron transport chain dysfunction and oxidative stress, coenzyme Q10 deficiency, metabolic reprogramming, carnitine deficiency, cardiac excitation-contraction coupling alteration, genetics, epigenetics, microRNAs, micronutrients deficiencies, renin-angiotensin-aldosterone system activation, and increased sympathetic activation. " 02/01/2016 - "Our results suggest that 20 mg/day of simvastatin does not have significant risk of hepatotoxicity and ubiquinol supplementation may, at the miRNA level, provide potential beneficial changes to reduce the effects of coenzyme Q10 deficiency in the liver. "
9.	MicronutrientsIBA 04/16/2023 - "We selected 77 studies, enlightening 12 potential disease-specific or non-disease-specific pathogenetic mechanisms, namely: impaired substrate delivery to TCA cycle and TCA dysfunction, secondary mitochondrial electron transport chain dysfunction and oxidative stress, coenzyme Q10 deficiency, metabolic reprogramming, carnitine deficiency, cardiac excitation-contraction coupling alteration, genetics, epigenetics, microRNAs, micronutrients deficiencies, renin-angiotensin-aldosterone system activation, and increased sympathetic activation. "
10.	Messenger RNA (mRNA)IBA 01/01/2016 - "In this study, we have developed a lentiviral vector (CCoq9WP) able to overexpress Coq9 mRNA and COQ9 protein in mouse embryonic fibroblasts (MEFs) and hematopoietic progenitor cells (HPCs) from Coq9R239X mice, an animal model of mitochondrial encephalopathy due to primary Coenzyme Q (CoQ) deficiency. "

Therapies and Procedures

1.	Therapeutics 02/03/2015 - "While cells synthesize CoQ mostly endogenously, exogenous supplementation with CoQ has been successful as a therapy for patients with CoQ deficiency. " 01/01/2007 - "Patients with primary CoQ deficiency may benefit from CoQ supplementation, although the clinical response to this therapy varies even among patients with similar phenotypes. " 09/01/2022 - "Furthermore, our findings clearly indicate that the use of analogs of the CoQ biosynthetic precursor is a promising alternative therapy for primary CoQ deficiency and has potential for use in the treatment of more common neurodegenerative and metabolic diseases that are associated with secondary CoQ deficiency." 07/01/1999 - "According to recent reports about ubiquinone implication in several diseases, its determination in different biological samples seems very useful to elucidate the physiopathological mechanisms involved and even the to start a therapy in cases with ubiquinone deficiency." 01/01/2020 - "In addition, it is used as replacement therapy in patients with CoQ deficiency including inborn primary CoQ10 deficiency due to mutations in CoQ10-biosynthetic genes as well as secondary CoQ10 deficiency, which is frequently observed in patients with mitochondrial disease syndrome and in other conditions. "
2.	Diet Therapy (Therapy, Diet) 09/01/2022 - "The major metabolic and genetic treatable ataxic disorders include ataxia with vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, autosomal recessive cerebellar ataxia due to coenzyme Q10 deficiency, glucose transporter type 1 deficiency, and episodic ataxia type 2. The treatment of these disorders includes the replacement of deficient cofactors and vitamins, dietary modifications, and other specific treatments. " 12/07/2010 - "Furthermore, the absence of effect of NAC and the additivity of the effect of paraquat on a variety of long- and short-lived mutants suggest that the pathway triggered by mitochondrial superoxide is distinct from previously studied mechanisms, including insulin signaling, dietary restriction, ubiquinone deficiency, the hypoxic response, and hormesis. "
3.	Ketogenic Diet 11/08/2014 - "Although ketogenic diet seems to correct the clinical consequences of CoQ deficiency, adjuvant treatment with CoQ could be trialled in this condition if our findings are confirmed in further G1D patients."
4.	Oral Administration 05/01/1974 - "The relationships among a CoQ deficiency in muscle, serum CPK, and use of CPK in muscle are uncertain; however, restoration of CoQ enzyme activity in muscle by oral administration of CoQ could lead to increased use of CPK in muscle to form phosphocreatine from creatine and ATP, with a corresponding decrease in serum levels of CPK. "
5.	Glycemic Control 01/10/2020 - "Athletes may suffer from a marginal coenzyme Q10 deficiency, and the level was related to glycemic control and antioxidant capacity. "