Coenzyme Q10 Deficiency

Common Name(s)

Coenzyme Q10 Deficiency

Primary CoQ10 deficiency is 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 (review by {12:Quinzii and Hirano, 2011}). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain ({4:Duncan et al., 2009}). The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia ({10:Ogasahara et al., 1989}); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure ({15:Rotig et al., 2000}); a predominantly cerebellar form with ataxia and cerebellar atrophy ({7:Lamperti et al., 2003}); Leigh syndrome with growth retardation ({19:van Maldergem et al., 2002)}; and an isolated myopathic form ({6:Lalani et al., 2005}). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 Deficiency See also COQ10D2 ({614651}), caused by mutation in the PDSS1 gene ({607429}) on chromosome 10p12; COQ10D3 ({614652}), caused by mutation in the PDSS2 gene ({610564}) on chromosome 6q21; COQ10D4 ({612016}), caused by mutation in the COQ8 gene (ADCK3; {606980}) on chromosome 1q42; COQ10D5 ({614654}), caused by mutation in the COQ9 gene ({612837}) on chromosome 16q21; and COQ10D6 ({614650}), caused by mutation in the COQ6 gene ({614647}) on chromosome 14q24. A single patient with primary CoQ10 deficiency associated with a de novo heterozygous 3.9-Mb deletion on chromosome 9q34 has been reported; the deleted region included at least 80 genes, 1 of which was COQ4 ({612898}) ({17:Salviati et al., 2012}). Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD; {231680}), caused by mutation in the ETFDH gene ({231675}) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1; {208920}), caused by mutation in the APTX gene ({606350}) on chromosome 9p13.
 

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Condition Specific Organizations

Following organizations serve the condition "Coenzyme Q10 Deficiency" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Coenzyme Q10 Deficiency" returned 12 free, full-text research articles on human participants. First 3 results:

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.
 

Author(s): Mara Doimo, Eva Trevisson, Rannar Airik, Marc Bergdoll, Carlos Santos-Ocaña, Friedhelm Hildebrandt, Placido Navas, Fabien Pierrel, Leonardo Salviati

Journal: Biochim. Biophys. Acta. 2014 Jan;1842(1):1-6.

 

Human COQ6 encodes a monooxygenase which is responsible for the C5-hydroxylation of the quinone ring of coenzyme Q (CoQ). Mutations in COQ6 cause primary CoQ deficiency, a condition responsive to oral CoQ10 supplementation. Treatment is however still problematic given the poor bioavailability ...

Last Updated: 9 Dec 2013

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Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.
 

Author(s): Nanna Cornelius, Colleen Byron, Iain Hargreaves, Paula Fernandez Guerra, Andrea K Furdek, John Land, Weston W Radford, Frank Frerman, Thomas J Corydon, Niels Gregersen, Rikke K J Olsen

Journal: Hum. Mol. Genet.. 2013 Oct;22(19):3819-27.

 

Coenzyme Q10 (CoQ10) is essential for the energy production of the cells and as an electron transporter in the mitochondrial respiratory chain. CoQ10 links the mitochondrial fatty acid β-oxidation to the respiratory chain by accepting electrons from electron transfer flavoprotein-ubiquinone ...

Last Updated: 9 Sep 2013

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Coenzyme Q10 deficiency in patients with Parkinson's disease.
 

Author(s): Laurie K Mischley, Jason Allen, Ryan Bradley

Journal: J. Neurol. Sci.. 2012 Jul;318(1-2):72-5.

 

Reactive oxygen species (ROS) are well known to contribute to the pathophysiology of Parkinson's disease (PD). Clinical trials of antioxidants are currently underway in PD patients, however, antioxidant research has been hindered by a lack of peripheral biomarkers.

Last Updated: 1 Jun 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Coenzyme Q10 Deficiency" returned 2 free, full-text review articles on human participants. First 3 results:

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.
 

Author(s): Valentina Emmanuele, Luis C López, Luis López, Andres Berardo, Ali Naini, Saba Tadesse, Bing Wen, Erin D'Agostino, Martha Solomon, Salvatore DiMauro, Catarina Quinzii, Michio Hirano

Journal: Arch. Neurol.. 2012 Aug;69(8):978-83.

 

Coenzyme Q(10) (CoQ(10)) deficiency has been associated with 5 major clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. Primary CoQ(10) deficiency is due to defects in CoQ(10) biosynthesis, while secondary ...

Last Updated: 22 Aug 2012

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Human coenzyme Q10 deficiency.
 

Author(s): Catarina M Quinzii, Salvatore DiMauro, Michio Hirano

Journal: Neurochem. Res.. ;32(4-5):723-7.

 

Ubiquinone (coenzyme Q(10) or CoQ(10)) is a lipid-soluble component of virtually all cell membranes and has multiple metabolic functions. Deficiency of CoQ(10) (MIM 607426) has been associated with five different clinical presentations that suggest genetic heterogeneity, which may ...

Last Updated: 23 Mar 2007

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Genetic Disorders; Mitochondrial Diseases; Disorder of Mitochondrial Respiratory Chain Complexes; Deletion and Duplication of Mitochondrial DNA

 

Last Updated: 20 Nov 2014

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