Abstract
Coenzyme Q10 (CoQ10) is a lipophilic component of the mitochondrial respiratory enzyme chain, which transfers electrons to complex III (cytochrome bc1 complex) from complex I (NADH-CoQ reductase), complex II (succinate dehydrogenase), and from the oxidation of fatty acids and branched-chain amino acids via flavin-linked dehydrogenases. Additional cellular functions of CoQ10 have been described. Deficiency of CoQ10 in muscle has been identified in patients with a spectrum of encephalomyopathies ranging from predominant cerebellar ataxia to pure myopathy. In a family with two children affected by infantile-onset encephalomyopathy and nephropathy, the first mutation in a CoQ biosynthetic gene, COQ2, was identified, thus proving the existence of primary CoQ10 deficiency. This article reviews the current state-of-knowledge regarding biochemical and molecular genetic features of inherited CoQ10 deficiency.
Keywords: para-hydroxybenzoate (PHB), S. cerevisiae, C. elegans, nuclear DNA (nDNA), ataxia oculomotor apraxia 1 (AOA1)
Current Genomics
Title: Genetics of Primary CoQ10 Deficiency
Volume: 7 Issue: 6
Author(s): A. B. Naini, C. M. Quinzii, P. Navas, S. DiMauro and M. Hirano
Affiliation:
Keywords: para-hydroxybenzoate (PHB), S. cerevisiae, C. elegans, nuclear DNA (nDNA), ataxia oculomotor apraxia 1 (AOA1)
Abstract: Coenzyme Q10 (CoQ10) is a lipophilic component of the mitochondrial respiratory enzyme chain, which transfers electrons to complex III (cytochrome bc1 complex) from complex I (NADH-CoQ reductase), complex II (succinate dehydrogenase), and from the oxidation of fatty acids and branched-chain amino acids via flavin-linked dehydrogenases. Additional cellular functions of CoQ10 have been described. Deficiency of CoQ10 in muscle has been identified in patients with a spectrum of encephalomyopathies ranging from predominant cerebellar ataxia to pure myopathy. In a family with two children affected by infantile-onset encephalomyopathy and nephropathy, the first mutation in a CoQ biosynthetic gene, COQ2, was identified, thus proving the existence of primary CoQ10 deficiency. This article reviews the current state-of-knowledge regarding biochemical and molecular genetic features of inherited CoQ10 deficiency.
Export Options
About this article
Cite this article as:
Naini B. A., Quinzii M. C., Navas P., DiMauro S. and Hirano M., Genetics of Primary CoQ10 Deficiency, Current Genomics 2006; 7 (6) . https://dx.doi.org/10.2174/138920206778948682
DOI https://dx.doi.org/10.2174/138920206778948682 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...read more
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Nitric Oxide in Cardiac Transplantation
Vascular Disease Prevention (Discontinued) Cardiac and Metabolic Consequences of Aerobic Exercise Training in Experimental Diabetes
Current Diabetes Reviews Differential Contribution of Clinical Amounts of Acetaldehyde to Skeletal and Cardiac Muscle Dysfunction in Alcoholic Myopathy
Current Pharmaceutical Design Potential Therapeutic Effect of Antioxidant Therapy in Shock and Inflammation
Current Medicinal Chemistry Levosimendan: From Basic Science to Clinical Trials
Recent Patents on Cardiovascular Drug Discovery Editorial [Hot Topic:Metabolic Therapy: An Important Therapeutic Option for the Treatment of Cardiovascular Diseases (Executive Editors: G.M.C. Rosano and G. Barbaro)]
Current Pharmaceutical Design Hypertension and Endothelial Dysfunction: Therapeutic Approach
Current Vascular Pharmacology Free Fatty Acids: Circulating Contributors of Metabolic Syndrome
Cardiovascular & Hematological Agents in Medicinal Chemistry ADAM17 as a Therapeutic Target in Multiple Diseases
Current Pharmaceutical Design Meet Our Editorial Board Member
Current Cardiology Reviews Respiratory Syncytial Virus (RSV) Prevention and Treatment: Past, Present, and Future
Cardiovascular & Hematological Agents in Medicinal Chemistry Piperine: Medicinal, Analytical and Therapeutics perspective
Current Bioactive Compounds Atrial Natriuretic Peptide: Structure, Function, and Physiological Effects: A Narrative Review
Current Cardiology Reviews Nanotechnological Strategies for the Treatment of Neglected Diseases
Current Pharmaceutical Design Role of Autophagy in Alzheimer’s Disease
Current Enzyme Inhibition Investigational Positive Inotropic Agents for Acute Heart Failure
Cardiovascular & Hematological Disorders-Drug Targets Protein Factors Mediating Selenoprotein Synthesis
Current Protein & Peptide Science Twenty Years of Alcohol Septal Ablation in Hypertrophic Obstructive Cardiomyopathy
Current Cardiology Reviews MicroRNA 21 Emerging Role in Diabetic Complications: A Critical Update
Current Diabetes Reviews Amiodarone - A ‘Broad Spectrum’ Antiarrhythmic Drug
Cardiovascular & Hematological Disorders-Drug Targets