Coenzyme Q10 Deficiency



CoQ (ubiquinone) serves as a redox carrier in the mitochondrial respiratory chain and is a lipid-soluble antioxidant. CoQ10 deficiency has been associated with an enlarging spectrum of phenotypes (Table 56.1). Many patients had cerebellar ataxia, some had recurrent myoglobinuria with ragged-red fibers and lipid storage in muscle, and others had infantile encephalomyopathy, lactic acidosis, hypertrophic cardiomyopathy, optic atrophy, cataracts, sensorineural hearing loss, and nephropathy with focal and segmental glomerulosclerosis. In a boy with infantile encephalomyopathy and nephropathy, and deficiency of CoQ10 in muscle and fibroblasts, a homozygous p.Y297C mutation in the COQ2 gene was found. In fibroblasts carrying the same mutation, there was decreased ATP synthesis and increased oxidative stress-induced death, suggesting that partial CoQ10 deficiency can cause oxidative stress that is toxic to the cells.


Coenzyme Q Nephritic syndrome Optic atrophy MRI changes Ataxia 


  1. 1.
    Ogasahara S, Engel AG, Frens D, Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A. 1989;86:2379–82.PubMedCentralPubMedCrossRefGoogle Scholar
  2. 2.
    Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, Laverda AM, Basso G, Quinzii C, Angelini C, Hirano M, Naini AB, Navas P, DiMauro S, Montini G. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. Neurology. 2005;65(4):606–8.PubMedCrossRefGoogle Scholar
  3. 3.
    Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, DiMauro S, Hirano M. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet. 2006;78(2):345–9.PubMedCentralPubMedCrossRefGoogle Scholar
  4. 4.
    Quinzii CM, Lopez LC, Gilkerson RW, Dorado B, Coku J, Naini AB, Lagier-Tourenne C, Schuelke M, Salviati L, Carrozzo R, Santorelli F, Rahman S, Tazir M, Koenig M, DiMauro S, Hirano M. Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. FASEB J. 2010;24:3733–43.PubMedCentralPubMedCrossRefGoogle Scholar

Copyright information

© Springer International Publishing Switzerland 2014

Authors and Affiliations

  1. 1.Dipartimento di NeuroscienzeUniversità di PadovaPadovaItaly

Personalised recommendations