COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

American Journal of Human Genetics

Volumn 96, Issue 2, 2015, Pages 309-317

  Brea Calvo, Gloria ^a   Haack, Tobias B ^b,c   Karall, Daniela ^d   Ohtake, Akira ^e   Invernizzi, Federica ^f   Carrozzo, Rosalba ^g   Kremer, Laura ^b,c   Dusi, Sabrina ^f   Fauth, Christine ^d   Scholl Bürgi, Sabine ^d   Graf, Elisabeth ^b,c   Ahting, Uwe ^b,c   Resta, Nicoletta ^h   Laforgia, Nicola ^h   Verrigni, Daniela ^g   Okazaki, Yasushi ^e   Kohda, Masakazu ^e   Martinelli, Diego ^g   Freisinger, Peter ⁱ   Strom, Tim M ^b,c   Meitinger, Thomas ^b,c   Lamperti, Costanza ^f   Lacson, Atilano ^j   Navas, Placido ^a   Mayr, Johannes A ^k   Bertini, Enrico ^g   Murayama, Kei ^l,m   Zeviani, Massimo ⁿ   Prokisch, Holger ^b,c   Ghezzi, Daniele ^f   more..

^a UNIVERSIDAD PABLO DE OLAVIDE   (Spain)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^e SAITAMA MEDICAL UNIVERSITY   (Japan)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

^g BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^h UNIVERSITY OF BARI   (Italy)

ⁱ Klinikum Reutlingen   (Germany)

^j UNIVERSITY OF ALBERTA   (Canada)

^k PARACELSUS MEDICAL UNIVERSITY   (Austria)

^l CHIBA CHILDREN'S HOSPITAL   (Japan)

^m CHIBA CANCER CENTER   (Japan)

ⁿ MEDICAL RESEARCH COUNCIL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; LACTIC ACID; COQ4 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; UBIQUINONE;

ADOLESCENT; APGAR SCORE; ARTICLE; BIRTH WEIGHT; BRADYCARDIA; CEREBELLUM HYPOPLASIA; CLINICAL ARTICLE; COENZYME Q10 DEFICIENCY; COQ4 GENE; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FATALITY; FEMALE; GENE; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HEART FAILURE; HUMAN; INBORN ERROR OF METABOLISM; INDEL MUTATION; LACTATE BLOOD LEVEL; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RESPIRATORY CHAIN; RESPIRATORY DISTRESS SYNDROME; RESPIRATORY FAILURE; SACCHAROMYCES CEREVISIAE; AMINO ACID SEQUENCE; ATAXIA; CASE REPORT; DEFICIENCY; DNA SEQUENCE; EXOME; GENE STRUCTURE; GENETICS; MOLECULAR GENETICS; MUSCLE WEAKNESS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE;

AMINO ACID SEQUENCE; ATAXIA; BASE SEQUENCE; EXOME; FATAL OUTCOME; FEMALE; GENE COMPONENTS; HUMANS; MALE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE WEAKNESS; MUTATION; PEDIGREE; PHENOTYPE; SACCHAROMYCES CEREVISIAE; SEQUENCE ANALYSIS, DNA; UBIQUINONE;

EID: 84924942443     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.12.023     Document Type: Article

References (40)

1. M. Turunen, J. Olsson, and G. Dallner Metabolism and function of coenzyme Q Biochim. Biophys. Acta 1660 2004 171 199
2. K.S. Echtay, E. Winkler, and M. Klingenberg Coenzyme Q is an obligatory cofactor for uncoupling protein function Nature 408 2000 609 613
3. R.W. Miller, and J.R. Curry Mammalian dihydroorotate - ubiquinone reducatse complex. II. Correlation with cytochrome oxidase, mode of linkage with the cytochrome chain, and general properties Can. J. Biochem. 47 1969 725 734
4. C. Schmelzer, G. Lorenz, G. Rimbach, and F. Döring Influence of Coenzyme Q-10 on release of pro-inflammatory chemokines in the human monocytic cell line THP-1 Biofactors 31 2007 211 217
5. M. Bentinger, M. Tekle, and G. Dallner Coenzyme Q - biosynthesis and functions Biochem. Biophys. Res. Commun. 396 2010 74 79
6. M. Kawamukai Biosynthesis and bioproduction of coenzyme Q10 by yeasts and other organisms Biotechnol. Appl. Biochem. 53 2009 217 226
7. C.M. Quinzii, V. Emmanuele, and M. Hirano Clinical presentations of coenzyme q10 deficiency syndrome Mol Syndromol 5 2014 141 146
8. M. Zeviani, and V. Carelli Mitochondrial disorders Curr. Opin. Neurol. 20 2007 564 571
9. A.J. Duncan, M. Bitner-Glindzicz, B. Meunier, H. Costello, I.P. Hargreaves, L.C. López, M. Hirano, C.M. Quinzii, M.I. Sadowski, and J. Hardy A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease Am. J. Hum. Genet. 84 2009 558 566
10. A. Casarin, J.C. Jimenez-Ortega, E. Trevisson, V. Pertegato, M. Doimo, M.L. Ferrero-Gomez, S. Abbadi, R. Artuch, C. Quinzii, and M. Hirano Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis Biochem. Biophys. Res. Commun. 372 2008 35 39
11. B. Marbois, P. Gin, M. Gulmezian, and C.F. Clarke The yeast Coq4 polypeptide organizes a mitochondrial protein complex essential for coenzyme Q biosynthesis Biochim. Biophys. Acta 1791 2009 69 75
12. M. Spinazzi, A. Casarin, V. Pertegato, L. Salviati, and C. Angelini Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells Nat. Protoc. 7 2012 1235 1246
13. T.B. Haack, B. Haberberger, E.M. Frisch, T. Wieland, A. Iuso, M. Gorza, V. Strecker, E. Graf, J.A. Mayr, and U. Herberg Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing J. Med. Genet. 49 2012 277 283
14. M. Elstner, C. Andreoli, T. Klopstock, T. Meitinger, and H. Prokisch The mitochondrial proteome database: MitoP2 Methods Enzymol. 457 2009 3 20
15. A. Ohtake, K. Murayama, M. Mori, H. Harashima, T. Yamazaki, S. Tamaru, Y. Yamashita, Y. Kishita, Y. Nakachi, and M. Kohda Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification Biochim. Biophys. Acta 1840 2014 1355 1359
16. F. Invernizzi, I. D'Amato, P.B. Jensen, S. Ravaglia, M. Zeviani, and V. Tiranti Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells Mitochondrion 12 2012 328 335
17. S. Ogasahara, A.G. Engel, D. Frens, and D. Mack Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy Proc. Natl. Acad. Sci. USA 86 1989 2379 2382
18. C. Lamperti, A. Naini, M. Hirano, D.C. De Vivo, E. Bertini, S. Servidei, M. Valeriani, D. Lynch, B. Banwell, and M. Berg Cerebellar ataxia and coenzyme Q10 deficiency Neurology 60 2003 1206 1208
19. C. Mignot, E. Apartis, A. Durr, C. Marques Lourenço, P. Charles, D. Devos, C. Moreau, P. de Lonlay, N. Drouot, and L. Burglen Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression Orphanet J. Rare Dis. 8 2013 173
20. A. Rötig, E.-L. Appelkvist, V. Geromel, D. Chretien, N. Kadhom, P. Edery, M. Lebideau, G. Dallner, A. Munnich, L. Ernster, and P. Rustin Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency Lancet 356 2000 391 395
21. S.F. Heeringa, G. Chernin, M. Chaki, W. Zhou, A.J. Sloan, Z. Ji, L.X. Xie, L. Salviati, T.W. Hurd, and V. Vega-Warner COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness J. Clin. Invest. 121 2011 2013 2024
22. S. Ashraf, H.Y. Gee, S. Woerner, L.X. Xie, V. Vega-Warner, S. Lovric, H. Fang, X. Song, D.C. Cattran, and C. Avila-Casado ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption J. Clin. Invest. 123 2013 5179 5189
23. L. Van Maldergem, F. Trijbels, S. DiMauro, P.J. Sindelar, O. Musumeci, A. Janssen, X. Delberghe, J.J. Martin, and Y. Gillerot Coenzyme Q-responsive Leigh's encephalopathy in two sisters Ann. Neurol. 52 2002 750 754
24. S.R. Lalani, G.D. Vladutiu, K. Plunkett, T.E. Lotze, A.M. Adesina, and F. Scaglia Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency Arch. Neurol. 62 2005 317 320
25. M. Doimo, M.A. Desbats, C. Cerqua, M. Cassina, E. Trevisson, and L. Salviati Genetics of coenzyme q10 deficiency Mol Syndromol 5 2014 156 162
26. A. Aeby, Y. Sznajer, H. Cavé, E. Rebuffat, R. Van Coster, O. Rigal, and P. Van Bogaert Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency J. Inherit. Metab. Dis. 30 2007 827
27. D. Yubero, M. O Callaghan, R. Montero, A. Ormazabal, J. Armstrong, C. Espinos, M.A. Rodríguez, C. Jou, E. Castejon, and M.A. Aracil Association between coenzyme Q 10 and glucose transporter (GLUT1) deficiency BMC Pediatr. 14 2014 284
28. O. Musumeci, A. Naini, A.E. Slonim, N. Skavin, G.L. Hadjigeorgiou, N. Krawiecki, B.M. Weissman, C.Y. Tsao, J.R. Mendell, and S. Shanske Familial cerebellar ataxia with muscle coenzyme Q10 deficiency Neurology 56 2001 849 855
29. S. DiMauro, E.A. Schon, V. Carelli, and M. Hirano The clinical maze of mitochondrial neurology Nat Rev Neurol 9 2013 429 444
30. L. Salviati, E. Trevisson, M.A. Rodriguez Hernandez, A. Casarin, V. Pertegato, M. Doimo, M. Cassina, C. Agosto, M.A. Desbats, and G. Sartori Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency J. Med. Genet. 49 2012 187 191
31. F. Aberg, E.L. Appelkvist, G. Dallner, and L. Ernster Distribution and redox state of ubiquinones in rat and human tissues Arch. Biochem. Biophys. 295 1992 230 234
32. M. Forsgren, A. Attersand, S. Lake, J. Grünler, E. Swiezewska, G. Dallner, and I. Climent Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ Biochem. J. 382 2004 519 526
33. Y. Hanaki, S. Sugiyama, T. Ozawa, and M. Ohno Ratio of low-density lipoprotein cholesterol to ubiquinone as a coronary risk factor N. Engl. J. Med. 325 1991 814 815
34. P.H. Langsjoen, P.H. Langsjoen, and K. Folkers Long-term efficacy and safety of coenzyme Q10 therapy for idiopathic dilated cardiomyopathy Am. J. Cardiol. 65 1990 521 523
35. U. Manzoli, E. Rossi, G.P. Littarru, A. Frustaci, S. Lippa, A. Oradei, and V. Aureli Coenzyme Q10 in dilated cardiomyopathy Int. J. Tissue React. 12 1990 173 178
36. S.A. Mortensen, S. Vadhanavikit, and K. Folkers Deficiency of coenzyme Q10 in myocardial failure Drugs Exp. Clin. Res. 10 1984 497 502
37. M.A. Silver, P.H. Langsjoen, S. Szabo, H. Patil, and A. Zelinger Statin cardiomyopathy? A potential role for Co-Enzyme Q10 therapy for statin-induced changes in diastolic LV performance: description of a clinical protocol Biofactors 18 2003 125 127
38. G. Ghirlanda, A. Oradei, A. Manto, S. Lippa, L. Uccioli, S. Caputo, A.V. Greco, and G.P. Littarru Evidence of plasma CoQ10-lowering effect by HMG-CoA reductase inhibitors: a double-blind, placebo-controlled study J. Clin. Pharmacol. 33 1993 226 229
39. S.A. Mortensen, F. Rosenfeldt, A. Kumar, P. Dolliner, K.J. Filipiak, D. Pella, U. Alehagen, G. Steurer, G.P. Littarru Q-SYMBIO Study Investigators The effect of coenzyme Q10 on morbidity and mortality in chronic heart failure: results from Q-SYMBIO: a randomized double-blind trial JACC Heart Fail 2 2014 641 649
40. 10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2) Eur. J. Paediatr. Neurol. 17 2013 625 630