ArticleBMJ open2013
Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies.
Article in BMJ open, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- Evolution of COQ-Synthome Transcripts and CoQ Levels in Mice Tissues Along Aging: Effect of Resveratrol and Exercise.Antioxidants (Basel, Switzerland) · 2025Article
- Identification of a newMolecular genetics and metabolism reports · 2025Article
- Prenatal and progressive coenzyme QJournal of cachexia, sarcopenia and muscle · 2024Article
- Mutations of GEMIN5 are associated with coenzyme QEuropean journal of human genetics : EJHG · 2024Article
- Cerebellar glutamatergic system impacts spontaneous motor recovery by regulating Gria1 expression.NPJ Regenerative medicine · 2022Article
- Article
- Age-related mitochondrial dysfunction as a key factor in COVID-19 disease.Experimental gerontology · 2020Review
- Article
- A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.Human mutation · 2018Article
- Epigenetic modifications and glucocorticoid sensitivity in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS).BMC medical genomics · 2017Article
- Role of Mitochondrial Reverse Electron Transport in ROS Signaling: Potential Roles in Health and Disease.Frontiers in physiology · 2017Review
- Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.Journal of inherited metabolic disease · 2015Review
- Integrative analysis of independent transcriptome data for rare diseases.Methods (San Diego, Calif.) · 2014Article
- Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction.The international journal of biochemistry & cell biology · 2014Review
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 4 countries.
Funding
Abstract
objectivesCoenzyme Q10 (CoQ10) deficiency syndrome is a rare condition that causes mitochondrial dysfunction and includes a variety of clinical presentations as encephalomyopathy, ataxia and renal failure. First, we sought to set up what all have in common, and then investigate why CoQ10 supplementation reverses the bioenergetics alterations in cultured cells but not all the cellular phenotypes. DESIGN MODELLING STUDY: This work models the transcriptome of human CoQ10 deficiency syndrome in primary fibroblast from patients and study the genetic response to CoQ10 treatment in these cells.
settingFour hospitals and medical centres from Spain, Italy and the USA, and two research laboratories from Spain and the USA.
participantsPrimary cells were collected from patients in the above centres. MEASUREMENTS: We characterised by microarray analysis the expression profile of fibroblasts from seven CoQ10-deficient patients (three had primary deficiency and four had a secondary form) and aged-matched controls, before and after CoQ10 supplementation. Results were validated by Q-RT-PCR. The profile of DNA (CpG) methylation was evaluated for a subset of gene with displayed altered expression.
resultsCoQ10-deficient fibroblasts (independently from the aetiology) showed a common transcriptomic profile that promotes cell survival by activating cell cycle and growth, cell stress responses and inhibiting cell death and immune responses. Energy production was supported mainly by glycolysis while CoQ10 supplementation restored oxidative phosphorylation. Expression of genes involved in cell death pathways was partially restored by treatment, while genes involved in differentiation, cell cycle and growth were not affected. Stably demethylated genes were unaffected by treatment whereas we observed restored gene expression in either non-methylated genes or those with an unchanged methylation pattern.
conclusionsCoQ10 deficiency induces a specific transcriptomic profile that promotes cell survival, which is only partially rescued by CoQ10 supplementation.
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Registered trials
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