Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1842, Issue 1, 2014, Pages 1-6

  Doimo, Mara ^a,b   Trevisson, Eva ^a,b   Airik, Rannar ^c   Bergdoll, Marc ^d   Santos Ocaña, Carlos ^e   Hildebrandt, Friedhelm ^c   Navas, Placido ^e   Pierrel, Fabien ^f   Salviati, Leonardo ^a,b  

^a UNIVERSITY OF PADOVA   (Italy)

^b Pediatric Research Institute   (Italy)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d INST DE BIOL MOLEC DES PLANTES   (France)

^e INSTITUTO DE SALUD CARLOS III   (Spain)

^f UNIV GRENOBLE ALPES   (France)

Author keywords

Coenzyme Q; COQ6; Steroid resistant nephrotic syndrome; Vanillic acid

Indexed keywords

FLAVIN DEPENDENT MONOOXYGENASE; PROTOCATECHUIC ACID; UBIDECARENONE; UNCLASSIFIED DRUG; UNSPECIFIC MONOOXYGENASE; VANILLIC ACID;

ALLELE; ARTICLE; BIOINFORMATICS; BIOSYNTHESIS; CONGENITAL NEPHROTIC SYNDROME; CONTROLLED STUDY; ENZYME ACTIVITY; FRAMESHIFT MUTATION; HETEROLOGOUS EXPRESSION; HUMAN; HYDROXYLATION; MISSENSE MUTATION; MOLECULAR MODEL; NONSENSE MUTATION; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE;

3,4 DIHB; 3,4 DIHYDROXYBENZOIC ACID; 4-HYDROXYBENZOATE; 4HB; AARF DOMAIN CONTAINING KINASE 3; COENZYME Q; COENZYME Q(10); COQ; COQ(10); COQ6; COQ8-ADCK3; CYC1; CYTOCHROME C1; FAD; FLAVIN ADENINE DINUCLEOTIDE; FLAVIN-DEPENDENT MONOOXYGENASE; PARA-HYDROXYBENZOATE HYDROXYLASE; PHBH; SRNS; STEROID RESISTANT NEPHROTIC SYNDROME; STEROID-RESISTANT NEPHROTIC SYNDROME; VA; VANILLIC ACID;

AMINO ACID SEQUENCE; AMINOBENZOATES; ATAXIA; GENE EXPRESSION; HUMANS; HYDROXYBENZOATES; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUSCLE WEAKNESS; MUTATION; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; UBIQUINONE; VANILLIC ACID;

EID: 84887709796     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2013.10.007     Document Type: Article

References (17)

1. Turunen M., Olsson J., Dallner G. Metabolism and function of coenzyme Q. Biochim. Biophys. Acta 2004, 1660:171-199.
2. Tran U.C., Clarke C.F. Endogenous synthesis of coenzyme Q in eukaryotes. Mitochondrion 2007, (7 Suppl.):S62-S71.
3. Trevisson E., DiMauro S., Navas P., Salviati L. Coenzyme Q deficiency in muscle. Curr. Opin. Neurol. 2011, 24:449-456.
4. Heeringa S.F., Chernin G., Chaki M., Zhou W., Sloan A.J., Ji Z., Xie L.X., Salviati L., Hurd T.W., Vega-Warner V., Killen P.D., Raphael Y., Ashraf S., Ovunc B., Schoeb D.S., McLaughlin H.M., Airik R., Vlangos C.N., Gbadegesin R., Hinkes B., Saisawat P., Trevisson E., Doimo M., Casarin A., Pertegato V., Giorgi G., Prokisch H., Rotig A., Nurnberg G., Becker C., Wang S., Ozaltin F., Topaloglu R., Bakkaloglu A., Bakkaloglu S.A., Muller D., Beissert A., Mir S., Berdeli A., Varpizen S., Zenker M., Matejas V., Santos-Ocana C., Navas P., Kusakabe T., Kispert A., Akman S., Soliman N.A., Krick S., Mundel P., Reiser J., Nurnberg P., Clarke C.F., Wiggins R.C., Faul C., Hildebrandt F. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J. Clin. Invest. 2011, 121:2013-2024.
5. 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. 2011, 18:1134-1142.
6. Trevisson E., Burlina A., Doimo M., Pertegato V., Casarin A., Cesaro L., Navas P., Basso G., Sartori G., Salviati L. Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. J. Biol. Chem. 2009, 284:28926-28934.
7. Cassandrini D., Cilio M.R., Bianchi M., Doimo M., Balestri M., Tessa A., Rizza T., Sartori G., Meschini M.C., Nesti C., Tozzi G., Petruzzella V., Piemonte F., Bisceglia L., Bruno C., Dionisi-Vici C., D'Amico A., Fattori F., Carrozzo R., Salviati L., Santorelli F.M., Bertini E. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. J. Inherit. Metab. Dis. 2013, 36:43-53.
8. Salviati L., Trevisson E., Rodriguez Hernandez M.A., Casarin A., Pertegato V., Doimo M., Cassina M., Agosto C., Desbats M.A., Sartori G., Sacconi S., Memo L., Zuffardi O., Artuch R., Quinzii C., Dimauro S., Hirano M., Santos-Ocana C., Navas P. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. J. Med. Genet. 2012, 49:187-191.
9. Koskiniemi H., Metsa-Ketela M., Dobritzsch D., Kallio P., Korhonen H., Mantsala P., Schneider G., Niemi J. Crystal structures of two aromatic hydroxylases involved in the early tailoring steps of angucycline biosynthesis. J. Mol. Biol. 2007, 372:633-648.
10. Sacconi S., Feasson L., Antoine J.C., Pecheux C., Bernard R., Cobo A.M., Casarin A., Salviati L., Desnuelle C., Urtizberea A. A novel CRYAB mutation resulting in multisystemic disease. Neuromuscul. Disord. 2012, 22:66-72.
11. Schreuder H.A., Prick P.A., Wierenga R.K., Vriend G., Wilson K.S., Hol W.G., Drenth J. Crystal structure of the p-hydroxybenzoate hydroxylase-substrate complex refined at 1.9 A resolution. Analysis of the enzyme-substrate and enzyme-product complexes. J. Mol. Biol. 1989, 208:679-696.
12. Xie L.X., Hsieh E.J., Watanabe S., Allan C.M., Chen J.Y., Tran U.C., Clarke C.F. Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants. Biochim. Biophys. Acta 2011, 1811:348-360.
13. Peng M., Falk M.J., Haase V.H., King R., Polyak E., Selak M., Yudkoff M., Hancock W.W., Meade R., Saiki R., Lunceford A.L., Clarke C.F., Gasser D.L. Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease. PLoS Genet. 2008, 4:e1000061.
14. Levavasseur F., Miyadera H., Sirois J., Tremblay M.L., Kita K., Shoubridge E., Hekimi S. Ubiquinone is necessary for mouse embryonic development but is not essential for mitochondrial respiration. J. Biol. Chem. 2001, 276:46160-46164.
15. Gitzinger M., Kemmer C., Fluri D.A., El-Baba M.D., Weber W., Fussenegger M. The food additive vanillic acid controls transgene expression in mammalian cells and mice. Nucleic Acids Res. 2012, 40:e37.
16. Gomez F., Saiki R., Chin R., Srinivasan C., Clarke C.F. Restoring de novo coenzyme Q biosynthesis in Caenorhabditis elegans coq-3 mutants yields profound rescue compared to exogenous coenzyme Q supplementation. Gene 2012, 506:106-116.
17. Schafer F.Q., Buettner G.R. Redox environment of the cell as viewed through the redox state of the glutathione disulfide/glutathione couple. Free Radic. Biol. Med. 2001, 30:1191-1212.