Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

Montero, Raquel; Sánchez-Alcázar, José Antonio; Briones, Paz; Rodríguez-Hernández, Ángeles; Cordero, Mario D.; Trevisson, Eva; Salviati, Leonardo; Pineda, Merçè; García‐Cazorla, Àngels; Navas, Plácido; Artuch, Rafael

doi:10.1016/j.clinbiochem.2008.03.007

Cited by 66 publications

(71 citation statements)

References 13 publications

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“…The total CoQ 10 concentration is quantified by reverse-phase HPLC with electrochemical detection (Coulochem II, ESA, Mass., USA) according to a previously reported procedure [Montero et al, 2008]. Briefly, CoQ 9 and CoQ 10 are separated in a nucleosil C-18 column Infant with severe fatal CoQ 10 deficiency; Duncan et al [2009] (5 μm, 25 × 0.4 cm, Teknokroma, Barcelona, Spain).…”

Section: Hplc-ed Conditionsmentioning

confidence: 99%

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Biochemical Diagnosis of Coenzyme Q10 Deficiency

et al. 2014

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Coenzyme Q₁₀ (CoQ₁₀) deficiency appears to have a particularly heterogeneous clinical presentation. However, there appear to be 5 recognisable clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. However, although useful, clinical symptoms alone are insufficient for the definitive diagnosis of CoQ₁₀ deficiency which relies upon biochemical assessment of tissue CoQ₁₀ status. In this article, we review the biochemical methods used in the diagnosis of human CoQ₁₀ deficiency and indicate the most appropriate tissues for this evaluation.

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Section: Hplc-ed Conditionsmentioning

confidence: 99%

“…This HPLC method has been employed to assess the CoQ 10 status of plasma, skeletal muscle, and fibroblasts ( fig. 2 ) which were prepared and extracted according to the method of Montero et al [2008].…”

Section: Hplc-ed Conditionsmentioning

confidence: 99%

Biochemical Diagnosis of Coenzyme Q10 Deficiency

et al. 2014

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“…8 No CoQ 10 supplementation therapy was done prior to muscle or skin biopsies collection. All muscle biopsies were studied by standard histopathological procedures.…”

Section: Muscle and Skin Biopsiesmentioning

confidence: 99%

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

et al. 2015

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Coenzyme Q 10 (CoQ 10 ) deficiency is associated to a variety of clinical phenotypes including neuromuscular and nephrotic disorders. We report two unrelated boys presenting encephalopathy, ataxia, and lactic acidosis, who died with necrotic lesions in different areas of brain. Levels of CoQ 10 and complex II+III activity were increased in both skeletal muscle and fibroblasts, but it was a consequence of higher mitochondria mass measured as citrate synthase. In fibroblasts, oxygen consumption was also increased, whereas steady state ATP levels were decreased. Antioxidant enzymes such as NQO1 and MnSOD and mitochondrial marker VDAC were overexpressed. Mitochondria recycling markers Fis1 and mitofusin, and mtDNA regulatory Tfam were reduced. Exome sequencing showed mutations in PDHA1 in the first patient and in PDHB in the second. These genes encode subunits of pyruvate dehydrogenase complex (PDH) that could explain the compensatory increase of CoQ 10 and a defect of mitochondrial homeostasis. These two cases describe, for the first time, a mitochondrial disease caused by PDH defects associated with unbalanced of both CoQ 10 content and mitochondria homeostasis, which severely affects the brain. Both CoQ 10 and mitochondria homeostasis appears as new markers for PDH associated mitochondrial disorders.

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“…Clinical presentations include encephalomyopathy with lipid storage myopathy and myoglobinuria [Sobreira et al, 1997], ataxia and cerebellar atrophy [Artuch et al, 2006], severe infantile encephalomyopathy with renal failure [Salviati et al, 2005], isolated myopathy [Horvath et al, 2006], and nephrotic syndrome [Heeringa et al, 2011]. Secondary CoQ 10 deficiency has also been associated with diverse mitochondrial diseases [Quinzii et al, 2006;Gempel et al, 2007;Montero et al, 2008;Haas et al, 2009;Cotan et al, 2011;Miles MV et al, 2011]. In all of these conditions, CoQ 10 supplementation partially improves symptoms [Montini et al, 2008;Pineda et al, 2010;Schon et al, 2010] and usually induces a return to normal growth and respiration in CoQ 10 -deficient fibroblasts [Lopez-Martin et al, 2007;Cotan et al, 2011].…”

Section: Summarizing the Human Syndrome Of Coq 10 Deficiencymentioning

confidence: 99%

Invertebrate Models for Coenzyme Q10 Deficiency

Jiménez-Gancedo

Guerra

Navas³

2014

Mol Syndromol

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The human syndrome of coenzyme Q (CoQ) deficiency is a heterogeneous mitochondrial disease characterized by a diminution of CoQ content in cells and tissues that affects all the electron transport processes CoQ is responsible for, like the electron transference in mitochondria for respiration and ATP production and the antioxidant capacity that it exerts in membranes and lipoproteins. Supplementation with external CoQ is the main attempt to address these pathologies, but quite variable results have been obtained ranging from little response to a dramatic recovery. Here, we present the importance of modeling human CoQ deficiencies in animal models to understand the genetics and the pathology of this disease, although the election of an organism is crucial and can sometimes be controversial. Bacteria and yeast harboring mutations that lead to CoQ deficiency are unable to grow if they have to respire but develop without any problems on media with fermentable carbon sources. The complete lack of CoQ in mammals causes embryonic lethality, whereas other mutations produce tissue-specific diseases as in humans. However, working with transgenic mammals is time and cost intensive, with no assurance of obtaining results. Caenorhabditis elegans and Drosophila melanogaster have been used for years as organisms to study embryonic development, biogenesis, degenerative pathologies, and aging because of the genetic facilities and the speed of working with these animal models. In this review, we summarize several attempts to model reliable human CoQ deficiencies in invertebrates, focusing on mutant phenotypes pretty similar to those observed in human patients.

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Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

Cited by 66 publications

References 13 publications

Biochemical Diagnosis of Coenzyme Q<sub>10</sub> Deficiency

Biochemical Diagnosis of Coenzyme Q<sub>10</sub> Deficiency

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

Invertebrate Models for Coenzyme Q<sub>10</sub> Deficiency

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