Coenzyme Q10 deficiency
Coenzyme Q10 deficiency is a heterogeneous autosomal recessive mitochondrial encephalomyopathy. There is no clear genotype-phenotype correlation. Clinical symptoms include the central nervous system, muscles, heart, kidney and growth.
Five major clinical phenotypes can be distinguished: (1) encephalomyopathic form with ataxia and seizures; (2) multisystem infantile form with encephalopathy, cardiomyopathy, and nephropathy; (3) cerebellar form with cerebellar atrophy and consequentially ataxia; (4) Leigh syndrome with growth retardation; and (5) isolated myopathic form.
In about 50% of cases, ubiquinon levels are low in muscle cells.
The disorder can be successfully treated in some cases by Coenzyme Q10 substitution. The dosis is usually 5 to 30 mg/kg. In some cases, however, if severe neurological symptoms are present, doses of up to 3g/d can be used in adults.
Lai CH et al. (2000) Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.[^]
Iiizumi M et al. (2002) Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex.[^]
Lamperti C et al. (2003) Cerebellar ataxia and coenzyme Q10 deficiency.[^]
Auré K et al. (2004) Progression despite replacement of a myopathic form of coenzyme Q10 defect.[^]
Mollet J et al. (2008) CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.[^]
Lagier-Tourenne C et al. (2008) ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.[^]
Quinzii CM et al. (2010) Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.[^]
Saiki R et al. (2005) Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans.[^]
Mollet J et al. (2007) Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.[^]
Forsgren M et al. (2004) Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ.[^]
Salviati L et al. (2005) Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.[^]
Quinzii C et al. (2006) A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.[^]
López-Martín JM et al. (2007) Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.[^]
Hara K et al. (2007) Multiplex families with multiple system atrophy.[^]
Diomedi-Camassei F et al. (2007) COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.[^]
et al. (2013) Mutations in COQ2 in familial and sporadic multiple-system atrophy.[^]
López LC et al. (2006) Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.[^]
Peng M et al. (2008) Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.[^]
Loftus BJ et al. (1999) Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.[^]
Johnson A et al. (2005) COQ9, a new gene required for the biosynthesis of coenzyme Q in Saccharomyces cerevisiae.[^]
Duncan AJ et al. (2009) A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.[^]
Heeringa SF et al. (2011) COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.[^]