Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy

Journal of Medical Genetics

Volumn 52, Issue 9, 2015, Pages 627-635

  Chung, Wendy K ^a   Martin, Kimberly ^b   Jalas, Chaim ^c   Braddock, Stephen R ^b   Juusola, Jane ^d   Monaghan, Kristin G ^d   Warner, Barbara ^e   Franks, Samuel ^e   Yudkoff, Marc ^f   Lulis, Lauren ^f   Rhodes, Roy H ^g   Prasad, Vinay ^h   Torti, Erin ^b   Cho, Megan T ^d   Shinawi, Marwan ^a,e  

^a NewYork Presbyterian Hospital   (United States)

^b SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Bonei Olam   (United States)

^d GENEDX   (United States)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^g RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^h OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ASTROCYTOSIS; AUTOPSY; AUTOSOMAL RECESSIVE INHERITANCE; BIOCHEMICAL ANALYSIS; BRAIN DISEASE; BRAIN MALFORMATION; BRAINSTEM HYPOPLASIA; CARDIOMYOPATHY; CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CLINICAL EVALUATION; CLINICAL FEATURE; COENZYME Q4 GENE; CONTROLLED STUDY; EEG ABNORMALITY; FAMILY STUDY; FEMALE; GENE SEGREGATION; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INFANCY; INFANTILE SPASM; INTERVIEW; JEW; LACTIC ACIDOSIS; LETHALITY; MEDICAL RECORD REVIEW; MISSENSE MUTATION; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUSCLE HYPOTONIA; MUTATOR GENE; NEWBORN; NEWBORN PERIOD; PATIENT ASSESSMENT; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING; BIOSYNTHESIS; DNA SEQUENCE; GENETICS; MORTALITY; PATHOPHYSIOLOGY; PREGNANCY;

COQ4 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; UBIQUINONE;

FEMALE; HUMANS; INFANT, NEWBORN; JEWS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; PREGNANCY; SEQUENCE ANALYSIS, DNA; UBIQUINONE;

EID: 84946476156     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103140     Document Type: Article

References (26)

1. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011;12:745-55.
2. Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, Mootha VK. Targeted exome sequencing of suspected mitochondrial disorders. Neurology 2013;80:1762-70.
3. Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA 2014;312:68-77.
4. Debray FG, Lambert M, Mitchell GA. Disorders of mitochondrial function. Curr Opin Pediatr 2008;20:471-82.
5. Calvo SE, Mootha VK. The mitochondrial proteome and human disease. Annu Rev Genomics Hum Genet 2010;11:25-44.
6. Wong LJ, Scaglia F, Graham BH, Craigen WJ. Current molecular diagnostic algorithm for mitochondrial disorders. Mol Genet Metab 2010;100:111-17.
7. Scarpelli M, Todeschini A, Rinaldi F, Rota S, Padovani A, Filosto M. Strategies for treating mitochondrial disorders: An update. Mol Genet Metab 2014;113:253-60.
8. Belogrudov GI, Lee PT, Jonassen T, Hsu AY, Gin P, Clarke CF. Yeast COQ4 encodes a mitochondrial protein required for coenzyme Q synthesis. Arch Biochem Biophys 2001;392:48-58.
9. Tran UC, Clarke CF. Endogenous synthesis of coenzyme Q in eukaryotes. Mitochondrion 2007;7S:S62-71.
10. Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. J Inherit Metab Dis 2015;38:145-56.
11. Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, Salviati L. Genetics of coenzyme q10 deficiency. Mol Syndromol 2014;5:156-62.
12. Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am J Hum Genet 2015;96:309-17.
13. Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M. Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Arch Neurol 2012;69:978-83.
14. Casarin A, Jimenez-Ortega JC, Trevisson E, Pertegato V, Doimo M, Ferrero-Gomez ML, Abbadi S, Artuch R, Quinzii C, Hirano M, Basso G, Ocaña CS, Navas P, Salviati L. Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. Biochem Biophys Res Commun 2008;372:35-9.
15. González-Mariscal I, García-Testón E, Padilla S, Martín-Montalvo A, Pomares Viciana T, Vazquez-Fonseca L, Gandolfo Domínguez P, Santos-Ocaña C. The regulation of coenzyme q biosynthesis in eukaryotic cells: all that yeast can tell us. Mol Syndromol 2014;5:107-18.
16. Marbois B, Gin P, Gulmezian M, Clarke CF. The yeast Coq4 polypeptide organizes a mitochondrial protein complex essential for coenzyme Q biosynthesis. Biochim Biophys Acta 2009;1791:69-75.
17. Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch R, Quinzii C, Dimauro S, Hirano M, Santos-Ocaña C, Navas P. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. J Med Genet 2012;49:187-91.
18. Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis 2012;35:571-87.
19. Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, Pálmafy B, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, DiMauro S, Prokisch H, Lochmüller H, Horvath R. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 2007;130:2037-44.
20. Valsecchi F, Esseling JJ, Koopman WJ, Willems PH. Calcium and ATP handling in human NADH:ubiquinone oxidoreductase deficiency. Biochim Biophys Acta 2009;1792:1130-7.
21. Ylikallio E, Suomalainen A. Mechanisms of mitochondrial diseases. Ann Med 2012;44:41-59.
22. Galluzzi L, Kepp O, Trojel-Hansen C, Kroemer G. Mitochondrial control of cellular life, stress, and death. Circ Res 2012;111:1198-207.
23. Quinzii CM, López 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.
24. Blümcke I, Thom M, Aronica E, Armstrong DD, Vinters HV, Palmini A, Jacques TS, Avanzini G, Barkovich AJ, Battaglia G, Becker A, Cepeda C, Cendes F, Colombo N, Crino P, Cross JH, Delalande O, Dubeau F, Duncan J, Guerrini R, Kahane P, Mathern G, Najm I, Ozkara C, Raybaud C, Represa A, Roper SN, Salamon N, Schulze-Bonhage A, Tassi L, Vezzani A, Spreafico R. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 2011;52:158-74.
25. Bhagavan HN, Chopra RK. Coenzyme Q10: absorption, tissue uptake, metabolism and pharmacokinetics. Free Radic Res 2006;40:445-53.
26. García-Corzo L, Luna-Sánchez M, Doerrier C, Ortiz F, Escames G, Acuña-Castroviejo D, López LC. Ubiquinol-10 ameliorates mitochondrial encephalopathy associated with CoQ deficiency. Biochim Biophys Acta 2014;1842:893-901.