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Inherited Neuromuscular Diseases pp 117–128Cite as

Coenzyme Q10 Deficiencies in Neuromuscular Diseases

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 652))

Abstract

Coenzyme Q (CoQ) is an essential component of the respiratory chain but also participates in other mitochondrial functions such as regulation of the transition pore and uncoupling proteins. Furthermore, this compound is a specific substrate for enzymes of the fatty acids β–oxidation pathway and pyrimidine nucleotide biosynthesis. Furthermore, CoQ is an antioxidant that acts in all cellular membranes and lipoproteins. A complex of at least ten nuclear (COQ) genes encoded proteins synthesizes CoQ but its regulation is unknown. Since 1989, a growing number of patients with multisystemic mitochondrial disorders and neuromuscular disorders showing deficiencies of CoQ have been identified. CoQ deficiency caused by mutation(s) in any of the COQ genes is designated primary deficiency. Other patients have displayed other genetic defects independent on the CoQ biosynthesis pathway, and are considered to have secondary deficiencies. This review updates the clinical and molecular aspects of both types of CoQ deficiencies and proposes new approaches to understanding their molecular bases.

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Acknowledgements

This work has been partially supported by the European Union contract LSHB-CT-2004-005151 and the NIH grant 1R01HD057543-01.

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Authors and Affiliations

  1. Biochemistry Department, Hospital Sant Joan de Déu, Barcelona; CIBER de Enfermedades Raras(CIBERER), ISCII, Barcelona, Spain

    Rafael Artuch

  2. Clinical Genetics Unit, Department of Pediatrics, University of Padova, Padova, Italy

    Leonardo Salviati

  3. Department of Neurology, Technical University, Dresden, Germany

    Sandra Jackson

  4. Department of Neurology, Columbia University Medical Center, New York, USA

    Michio Hirano

  5. Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC and CIBER de Enfermedades Raras (CIBERER), ISCIII, Sevilla, Spain

    Plácido Navas

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  1. Rafael Artuch
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Editors and Affiliations

  1. CIBERER-BIOBANK, Avda. Campanar 21, Valencia, 46009, Spain

    Carmen Espinós

  2. Lab. Neurobiología, Centro de Investigación Príncipe Felipe, Av. Autopista del Saler 16, Valencia, 46012, Spain

    Vicente Felipo

  3. Inst. Biomedicina, CSIC Valencia, C/ Jaime Roig 11, Valencia, 46010, Spain

    Francesc Palau

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Artuch, R., Salviati, L., Jackson, S., Hirano, M., Navas, P. (2009). Coenzyme Q10 Deficiencies in Neuromuscular Diseases. In: Espinós, C., Felipo, V., Palau, F. (eds) Inherited Neuromuscular Diseases. Advances in Experimental Medicine and Biology, vol 652. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-2813-6_8

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