Genetics of coenzyme Q10 deficiency

Molecular Syndromology

Volumn 5, Issue 3-4, 2014, Pages 156-162

  Doimo, Mara ^a   Desbats, Maria A ^a   Cerqua, Cristina ^a   Cassina, Matteo ^a   Trevisson, Eva ^a   Salviati, Leonardo ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

COQ genes; Respiratory chain disorders

Indexed keywords

ADCK3 PROTEIN; ADCK4 PROTEIN; COENZYME Q 1; COENZYME Q 2; COENZYME Q 4; COENZYME Q 6; COENZYME Q 8; COENZYME Q 9; IDEBENONE; PHOSPHOTRANSFERASE; PRENYLDIPHOSPHATE SYNTHASE SUBUNIT 1; PRENYLDIPHOSPHATE SYNTHASE SUBUNIT 2; PROBUCOL; SYNTHETASE; UBIDECARENONE; UBIQUINONE; UNCLASSIFIED DRUG;

ARTICLE; COENZYME Q 10 DEFICIENCY; ENZYME DEFICIENCY; ENZYME SYNTHESIS; EUKARYOTE; GENE MUTATION; GENETIC ASSOCIATION; GENETICS; HUMAN; LABORATORY; MOLECULAR PATHOLOGY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; ATAXIA; BIOSYNTHESIS; CONGENITAL NEPHROTIC SYNDROME; DISEASE ASSOCIATION; DISEASES; GENE; HEARING IMPAIRMENT; HYPERTROPHIC CARDIOMYOPATHY; LACTIC ACIDOSIS; ONSET AGE; PATHOGENESIS; RESPIRATORY TRACT DISEASE; RETINITIS PIGMENTOSA;

EUKARYOTA;

EID: 84903986441     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000362826     Document Type: Article

References (57)

1. Aeby A, Sznajer Y, Cave H, Rebuffat E, Van Coster R, et al: Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q 10 deficiency. J Inherit Metab Dis 30: 827 (2007
2. Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, et al: Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: Implications for clinical management. Neurogenetics 11: 1-12 (2010
3. Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, et al: ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ 10 biosynthesis disruption. J Clin Invest 123: 5179-5189 (2013
4. Bhagavan HN, Chopra RK, Craft NE, Chitchumroonchokchai C, Failla ML: Assessment of coenzyme Q 10 absorption using an in vitro digestion-Caco-2 cell model. Int J Pharm 333: 112-117 (2007 (Pubitemid 46283277)
5. Casarin A, Jimenez-Ortega JC, Trevisson E, Pertegato V, Doimo M, et al: Functional characterization of human COQ4, a gene required for coenzyme Q 10 biosynthesis. Biochem Biophys Res Commun 372: 35-39 (2008
6. Cordero MD, Moreno-Fernandez AM, deMiguel M, Bonal P, Campa F, et al: Coenzyme Q10 distribution in blood is altered in patients with fibromyalgia. Clin Biochem 42: 732-735 (2009
7. Cotan D, Cordero MD, Garrido-Maraver J, Oropesa-Avila M, Rodriguez-Hernandez A, et al: Secondary coenzyme Q 10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts. FASEB J 25: 2669-2687 (2011
8. Crane FL, Navas P: The diversity of coenzyme Q function. Mol Aspects Med 18 Suppl: S1-S6 (1997
9. Dinwiddie DL, Smith LD, Miller NA, Atherton AM, Farrow EG, et al: Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. Genomics 102: 148-156 (2013
10. Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, et al: COQ2 nephropathy: A newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol 18: 2773-2780 (2007 (Pubitemid 47531205)
11. Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, et al: A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q 10 deficiency: A potentially treatable form of mitochondrial disease. Am J Hum Genet 84: 558-566 (2009
12. Emma F, Bertini E, Salviati L, Montini G: Renal involvement in mitochondrial cytopathies. Pediatr Nephrol 27: 539-550 (2012
13. Ericsson J, Dallner G: Distribution, biosynthesis, and function of mevalonate pathway lipids. Subcell Biochem 21: 229-272 (1993
14. Falk MJ, Polyak E, Zhang Z, Peng M, King R, et al: Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice. EMBO Mol Med 3: 410-427 (2011
15. Fernandes G, Yunis EJ, Miranda M, Smith J, Good RA: Nutritional inhibition of genetically determined renal disease and autoimmunity with prolongation of life in kdkd mice. Proc Natl Acad Sci USA 75: 2888-2892 (1978 (Pubitemid 8375014)
16. Garcia-Corzo L, Luna-Sanchez M, Doerrier C, Garcia JA, Guaras A, et al: Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency. Hum Mol Genet 22: 1233-1248 (2013
17. Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, et al: The myopathic form of coenzyme Q 10 deficiency is caused by mutations in the electron-Transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 130: 2037-2044 (2007 (Pubitemid 47236610)
18. Gerards M, van den Bosch B, Calis C, Schoonderwoerd K, van Engelen K, et al: Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. Mitochondrion 10: 510-515 (2010
19. Haas D, Niklowitz P, Horster F, Baumgartner ER, Prasad C, et al: Coenzyme Q 10 is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. J Inherit Metab Dis 32: 570-575 (2009
20. Hallman TM, Peng M, Meade R, Hancock WW, Madaio MP, Gasser DL: The mitochondrial and kidney disease phenotypes of kd/kd mice under germfree conditions. J Autoimmun 26: 1-6 (2006 (Pubitemid 43138886)
21. Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, et al: COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest 121: 2013-2024 (2011
22. Horvath R, Czermin B, Gulati S, Demuth S, Houge G, et al: Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3 . J Neurol Neurosurg Psychiatry 83: 174-178 (2012
23. Jakobs BS, van den Heuvel LP, Smeets RJ, de Vries MC, Hien S, et al: A novel mutation in COQ2 leading to fatal infantile multisystem disease. J Neurol Sci 326: 24-28 (2013
24. Lagier-Tourenne C, Tazir M, Lopez LC, Quinzii CM, Assoum M, et al: ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q 10 deficiency. Am J Hum Genet 82: 661-672 (2008 (Pubitemid 351735958)
25. Levavasseur F, Miyadera H, Sirois J, Tremblay ML, Kita K, et al: Ubiquinone is necessary for mouse embryonic development but is not essential for mitochondrial respiration. J Biol Chem 276: 46160-46164 (2001
26. Lopez LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, et al: Leigh syndrome with nephropathy and CoQ 10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet 79: 1125-1129 (2006 (Pubitemid 44853484)
27. Lopez LC, Quinzii CM, Area E, Naini A, Rahman S, et al: Treatment of CoQ 10 deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: Time-And compound-dependent effects. PLoS One 5: E11897 (2010
28. Lopez-Martin JM, Salviati L, Trevisson E, Montini G, DiMauro S, et al: Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. Hum Mol Genet 16: 1091-1097 (2007 (Pubitemid 47062729)
29. Lu S, Lu LY, Liu MF, Yuan QJ, Sham MH, et al: Cerebellar defects in Pdss2 conditional knockout mice during embryonic development and in adulthood. Neurobiol Dis 45: 219-233 (2012
30. Marbois B, Gin P, Faull KF, Poon WW, Lee PT, et al: Coq3 and Coq4 define a polypeptide complex in yeast mitochondria for the biosynthesis of coenzyme Q. J Biol Chem 280: 20231-20238 (2005 (Pubitemid 40776719)
31. McCarthy HJ, Bierzynska A, Wherlock M, Ognjanovic M, Kerecuk L, et al: Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 8: 637-648 (2013
32. Miles MV, Miles L, Tang PH, Horn PS, Steele PE, et al: Systematic evaluation of muscle coenzyme Q 10 content in children with mitochondrial respiratory chain enzyme deficiencies. Mitochondrion 8: 170-180 (2008
33. Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, et al: Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest 117: 765-772 (2007 (Pubitemid 46348535)
34. Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, et al: CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 82: 623-630 (2008 (Pubitemid 351735957)
35. Montero R, Artuch R, Briones P, Nascimento A, Garcia-Cazorla A, et al: Muscle coenzyme Q 10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders. Biofactors 25: 109-115 (2005 (Pubitemid 44070838)
36. Montini G, Malaventura C, Salviati L: Early coenzyme Q 10 supplementation in primary coenzyme Q 10 deficiency. N Engl J Med 358: 2849-2850 (2008 (Pubitemid 351930884)
37. Multiple-System Atrophy Research Collaboration: Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J Med 369: 233-244 (2013
38. Ogasahara S, Engel AG, Frens D, Mack D: Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci USA 86: 2379-2382 (1989 (Pubitemid 19102512)
39. Ozeir M, Muhlenhoff U, Webert H, Lill R, Fontecave M, Pierrel F: Coenzyme Q biosynthesis: Coq6 is required for the C5-hydroxylation reaction and substrate analogs rescue Coq6 deficiency. Chem Biol 18: 1134-1142 (2011
40. Peng M, Falk MJ, Haase VH, King R, Polyak E, et al: Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease. PLoS Genet 4: E1000061 (2008
41. Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, et al: Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 64: 539-541 (2005 (Pubitemid 40189878)
42. Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, et al: A mutation in para-hydroxybenzoatepolyprenyl transferase (COQ2) causes primary coenzyme Q 10 deficiency. Am J Hum Genet 78: 345-349 (2006 (Pubitemid 43157573)
43. Quinzii CM, Hirano M, DiMauro S: CoQ 10 deficiency diseases in adults. Mitochondrion 7 Suppl: S122-126 (2007
44. Quinzii CM, Lopez LC, Gilkerson RW, Dorado B, Coku J, et al: Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ 10 deficiency. FASEB J 24: 3733-3743 (2010
45. Rahman S, Hargreaves I, Clayton P, Heales S: Neonatal presentation of coenzyme Q 10 deficiency. J Pediatr 139: 456-458 (2001
46. Rahman S, Clarke CF, Hirano M: 176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q 10 deficiency. Neuromuscul Disord 22: 76-86 (2011
47. Rodriguez-Hernandez A, Cordero MD, Salviati L, Artuch R, Pineda M, et al: Coenzyme Q deficiency triggers mitochondria degradation by mitophagy. Autophagy 5: 19-32 (2009
48. Rotig A, Appelkvist EL, Geromel V, Chretien D, Kadhom N, et al: Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q 10 deficiency. Lancet 356: 391-395 (2000 (Pubitemid 30487496)
49. Sacconi S, Trevisson E, Salviati L, Ayme S, Rigal O, et al: Coenzyme Q 10 is frequently reduced in muscle of patients with mitochondrial myopathy. Neuromuscul Disord 20: 44-48 (2010
50. Saiki R, Lunceford AL, Shi Y, Marbois B, King R, et al: Coenzyme Q 10 supplementation rescues renal disease in Pdss2k d/kd mice with mutations in prenyl diphosphate synthase subunit 2. Am J Physiol Renal Physiol 295: F1535-1544 (2008
51. Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, et al: Infantile encephalomyopathy and nephropathy with CoQ 10 deficiency: A CoQ 10-responsive condition. Neurology 65: 606-608 (2005 (Pubitemid 41170725)
52. Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, et al: Haploinsufficiency of COQ4 causes coenzyme Q 10 deficiency. J Med Genet 49: 187-191 (2012
53. Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, et al: Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ 10 deficiency caused by mutations in para-hydroxybenzoatepolyprenyl transferase (COQ2) . Eur J Paediatr Neurol 17: 625-630 (2013
54. Terracciano A, Renaldo F, Zanni G, D'Amico A, Pastore A, et al: The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. Eur J Paediatr Neurol 16: 248-256 (2012
55. Tran UC, Clarke CF: Endogenous synthesis of coenzyme Q in eukaryotes. Mitochondrion 7 Suppl: S62-71 (2007 (Pubitemid 46712237)
56. Trevisson E, DiMauro S, Navas P, Salviati L: Coenzyme Q deficiency in muscle. Curr Opin Neurol 24: 449-456 (2011
57. Tzagoloff A, Dieckmann CL: PET genes of Saccharomyces cerevisiae . Microbiol Rev 54: 211-225 (1990.