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Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency

  • Complex Lipids
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Coenzyme Q10 is a remarkable lipid involved in many cellular processes such as energy production through the mitochondrial respiratory chain (RC), beta-oxidation of fatty acids, and pyrimidine biosynthesis, but it is also one of the main cellular antioxidants. Its biosynthesis is still incompletely characterized and requires at least 15 genes. Mutations in eight of them (PDSS1, PDSS2, COQ2, COQ4, COQ6, ADCK3, ADCK4, and COQ9) cause primary CoQ10 deficiency, a heterogeneous group of disorders with variable age of onset (from birth to the seventh decade) and associated clinical phenotypes, ranging from a fatal multisystem disease to isolated steroid resistant nephrotic syndrome (SRNS) or isolated central nervous system disease. The pathogenesis is complex and related to the different functions of CoQ10. It involves defective ATP production and oxidative stress, but also an impairment of pyrimidine biosynthesis and increased apoptosis. CoQ10 deficiency can also be observed in patients with defects unrelated to CoQ10 biosynthesis, such as RC defects, multiple acyl-CoA dehydrogenase deficiency, and ataxia and oculomotor apraxia.

Patients with both primary and secondary deficiencies benefit from high-dose oral supplementation with CoQ10. In primary forms treatment can stop the progression of both SRNS and encephalopathy, hence the critical importance of a prompt diagnosis. Treatment may be beneficial also for secondary forms, although with less striking results.

In this review we will focus on CoQ10 biosynthesis in humans, on the genetic defects and the specific clinical phenotypes associated with CoQ10 deficiency, and on the diagnostic strategies for these conditions.

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Acknowledgments

This work is supported by Telethon Italy Grant GGP13222, a grant from Fondazione CARIPARO, and University of Padova Grant CPDA123573/12 (to L.S.) and from Ministry of Health Grant GR-2009-1578914 to (E.T.)

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  1. Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, Padova, 35128, Italy

    Maria Andrea Desbats, Giada Lunardi, Mara Doimo, Eva Trevisson & Leonardo Salviati

  2. IRP Città della Speranza, Corso Stati Uniti 4, 35127, Padova, Italy

    Maria Andrea Desbats, Giada Lunardi, Mara Doimo, Eva Trevisson & Leonardo Salviati

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  1. Maria Andrea Desbats
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Correspondence to Leonardo Salviati.

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Communicated by: Shamima Rahman

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Desbats, M.A., Lunardi, G., Doimo, M. et al. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency. J Inherit Metab Dis 38, 145–156 (2015). https://doi.org/10.1007/s10545-014-9749-9

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