Mevalonate kinase is an enzyme (specifically a kinase) that in humans is encoded by the MVKgene.[2][3] Mevalonate kinases are found in a wide variety of organisms from bacteria to mammals. This enzyme catalyzes the following reaction:
Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash.[2]
↑PDB: 2X7I; Oke M, Carter LG, Johnson KA, Liu H, McMahon SA, Yan X, Kerou M, Weikart ND, Kadi N, Sheikh MA, Schmelz S, Dorward M, Zawadzki M, Cozens C, Falconer H, Powers H, Overton IM, van Niekerk CA, Peng X, Patel P, Garrett RA, Prangishvili D, Botting CH, Coote PJ, Dryden DT, Barton GJ, Schwarz-Linek U, Challis GL, Taylor GL, White MF, Naismith JH (June 2010). "The Scottish Structural Proteomics Facility: targets, methods and outputs". J. Struct. Funct. Genomics. 11 (2): 167–80. doi:10.1007/s10969-010-9090-y. PMC2883930. PMID20419351.
↑Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson KM, Tanaka RD (July 1992). "Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria". J. Biol. Chem. 267 (19): 13229–38. PMID1377680.
Naruto T, Nakagishi Y, Mori M, et al. (2009). "Hyper-IgD syndrome with novel mutation in a Japanese girl". Mod Rheumatol. 19 (1): 96–9. doi:10.1007/s10165-008-0130-4. PMID18941711.
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Fu Z, Voynova NE, Herdendorf TJ, et al. (2008). "Biochemical and structural basis for feedback inhibition of mevalonate kinase and isoprenoid metabolism". Biochemistry. 47 (12): 3715–24. doi:10.1021/bi7024386. PMID18302342.
Hager EJ, Gibson KM (2007). "Mevalonate kinase deficiency and autoinflammation". N. Engl. J. Med. 357 (18): 1871–2. doi:10.1056/NEJMc072799. PMID17978300.
Marques-Vidal P, Bochud M, Paccaud F, et al. (2010). "No interaction between alcohol consumption and HDL-related genes on HDL cholesterol levels". Atherosclerosis. 211 (2): 551–7. doi:10.1016/j.atherosclerosis.2010.04.001. PMID20430392.
Lu Y, Dollà ME, Imholz S, et al. (2008). "Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations". J. Lipid Res. 49 (12): 2582–9. doi:10.1194/jlr.M800232-JLR200. PMID18660489.
Samkari A, Borzutzky A, Fermo E, et al. (2010). "A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia". Pediatrics. 125 (4): e964–8. doi:10.1542/peds.2009-1774. PMID20194276.
Nakayama K, Bayasgalan T, Yamanaka K, et al. (2009). "Large scale replication analysis of loci associated with lipid concentrations in a Japanese population". J. Med. Genet. 46 (6): 370–4. doi:10.1136/jmg.2008.064063. PMID19487539.
Simon A, van der Meer JW, Vesely R, et al. (2006). "Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes". Rheumatology (Oxford). 45 (3): 269–73. doi:10.1093/rheumatology/kei138. PMID16234278.
Gattorno M, Sormani MP, D'Osualdo A, et al. (2008). "A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children". Arthritis Rheum. 58 (6): 1823–32. doi:10.1002/art.23474. PMID18512793.
Nair AK, Young MA, Menon KM (2008). "Regulation of luteinizing hormone receptor mRNA expression by mevalonate kinase--role of the catalytic center in mRNA recognition". FEBS J. 275 (13): 3397–407. doi:10.1111/j.1742-4658.2008.06490.x. PMID18494797.
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