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Gene Review

MVK  -  mevalonate kinase

Homo sapiens

Synonyms: LRBP, MK, MVLK, Mevalonate kinase, POROK3
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Disease relevance of MVK


High impact information on MVK


Chemical compound and disease context of MVK


Biological context of MVK

  • Patient 1 was heterozygous for a known MVK missense mutation (V377I) and a novel mutation that led to skipping of exon 3 [11].
  • CONCLUSION: The genotype findings indicate that a relatively small number of genes may be involved in the clinical manifestation of HIDS, with low-penetrance TNFRSF1A variants possibly influencing the HIDS phenotype or MVK mutations contributing to TRAPS [12].
  • In addition, sequencing of exons 2, 3, 4, and 6 of the TNFRSF1A gene was performed in patients with only one or no MVK mutation [12].
  • Analysis of the distribution of the V377I allele within patients carrying MVK mutations revealed that this was not according to the Hardy-Weinberg equilibrium principle, most probably due to an under-representation of V377I homozygotes in HIDS [13].
  • Based on the V377I allele frequency of 42% in patients diagnosed with MK deficiency, the carrier frequency of any MVK mutation in the Dutch population can be calculated as 1 : 65 [13].

Anatomical context of MVK


Associations of MVK with chemical compounds

  • 2. We describe a girl with heterozygosity for the common MVK V377I mutation and for a novel T(1132) --> C transition, leading to the exchange of serine (TCC) by proline (CCC) at amino-acid position 378 [18].
  • OBJECTIVE: The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM 260920) is caused by recessive mutations in the mevalonate kinase gene (MVK), which encodes an enzyme involved in cholesterol and nonsterol isoprenoid biosynthesis [11].
  • Her IgD values varied between normal and slightly increased, and the MK activity was in the low-normal range, while urinary mevalonate concentrations were always normal [12].
  • This triggered a compensatory increase in 3-hydroxy-3-methylglutaryl-CoA reductase activity, indicating that MK becomes progressively rate-limiting [14].
  • Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis [19].

Other interactions of MVK


Analytical, diagnostic and therapeutic context of MVK


  1. Insertional activation of mevalonate kinase by hepatitis B virus DNA in a human hepatoma cell line. Graef, E., Caselmann, W.H., Wells, J., Koshy, R. Oncogene (1994) [Pubmed]
  2. Mevalonate kinase deficiency: Evidence for a phenotypic continuum. Simon, A., Kremer, H.P., Wevers, R.A., Scheffer, H., De Jong, J.G., Van Der Meer, J.W., Drenth, J.P. Neurology (2004) [Pubmed]
  3. Biochemical and genetic aspects of mevalonate kinase and its deficiency. Houten, S.M., Wanders, R.J., Waterham, H.R. Biochim. Biophys. Acta (2000) [Pubmed]
  4. Fitting the two-stage model of carcinogenesis to nested case-control data on the Colorado Plateau uranium miners: dependence on data assumptions. Haylock, R.G., Muirhead, C.R. Radiation and environmental biophysics. (2004) [Pubmed]
  5. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Drenth, J.P., Cuisset, L., Grateau, G., Vasseur, C., van de Velde-Visser, S.D., de Jong, J.G., Beckmann, J.S., van der Meer, J.W., Delpech, M. Nat. Genet. (1999) [Pubmed]
  6. Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. Hoffmann, G., Gibson, K.M., Brandt, I.K., Bader, P.I., Wappner, R.S., Sweetman, L. N. Engl. J. Med. (1986) [Pubmed]
  7. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool. Simon, A., Cuisset, L., Vincent, M.F., van Der Velde-Visser, S.D., Delpech, M., van Der Meer, J.W., Drenth, J.P. Ann. Intern. Med. (2001) [Pubmed]
  8. Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency. Hübner, C., Hoffmann, G.F., Charpentier, C., Gibson, K.M., Finckh, B., Puhl, H., Lehr, H.A., Kohlschütter, A. Pediatr. Res. (1993) [Pubmed]
  9. Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. Wanders, R.J., Romeijn, G.J. J. Inherit. Metab. Dis. (1998) [Pubmed]
  10. Probing cataractogenesis associated with mevalonic aciduria. Cenedella, R.J., Sexton, P.S. Curr. Eye Res. (1998) [Pubmed]
  11. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Takada, K., Aksentijevich, I., Mahadevan, V., Dean, J.A., Kelley, R.I., Kastner, D.L. Arthritis Rheum. (2003) [Pubmed]
  12. Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa. Stojanov, S., Lohse, P., Lohse, P., Hoffmann, F., Renner, E.D., Zellerer, S., Kéry, A., Shin, Y.S., Haas, D., Hoffmann, G.F., Belohradsky, B.H. Arthritis Rheum. (2004) [Pubmed]
  13. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Houten, S.M., van Woerden, C.S., Wijburg, F.A., Wanders, R.J., Waterham, H.R. Eur. J. Hum. Genet. (2003) [Pubmed]
  14. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Houten, S.M., Frenkel, J., Rijkers, G.T., Wanders, R.J., Kuis, W., Waterham, H.R. Hum. Mol. Genet. (2002) [Pubmed]
  15. The role of peroxisomes in cholesterol metabolism. Krisans, S.K. Am. J. Respir. Cell Mol. Biol. (1992) [Pubmed]
  16. A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. Breton-Gorius, J., Favier, R., Guichard, J., Cherif, D., Berger, R., Debili, N., Vainchenker, W., Douay, L. Blood (1995) [Pubmed]
  17. Role of protein kinase C in phosphorylation of vinculin in adriamycin-resistant HL-60 leukemia cells. Aquino, A., Hartman, K.D., Knode, M.C., Grant, S., Huang, K.P., Niu, C.H., Glazer, R.I. Cancer Res. (1988) [Pubmed]
  18. Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation. Hoffmann, F., Lohse, P., Stojanov, S., Shin, Y.S., Renner, E.D., Kéry, A., Zellerer, S., Belohradsky, B.H. Eur. J. Hum. Genet. (2005) [Pubmed]
  19. Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. Houten, S.M., Romeijn, G.J., Koster, J., Gray, R.G., Darbyshire, P., Smit, G.P., de Klerk, J.B., Duran, M., Gibson, K.M., Wanders, R.J., Waterham, H.R. Hum. Mol. Genet. (1999) [Pubmed]
  20. Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency. Schneiders, M.S., Houten, S.M., Turkenburg, M., Wanders, R.J., Waterham, H.R. Arthritis Rheum. (2006) [Pubmed]
  21. Regulatory adaptation of isoprenoid biosynthesis and the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiency. Hoffmann, G.F., Wiesmann, U.N., Brendel, S., Keller, R.K., Gibson, K.M. Pediatr. Res. (1997) [Pubmed]
  22. Effect of the hypocholesterolemic agent YM-16638 on cholesterol biosynthesis activity and apolipoprotein B secretion in HepG2 and monkey liver. Goto, S., Shimokawa, T. Jpn. J. Pharmacol. (1999) [Pubmed]
  23. Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency. Hinson, D.D., Chambliss, K.L., Hoffmann, G.F., Krisans, S., Keller, R.K., Gibson, K.M. J. Biol. Chem. (1997) [Pubmed]
  24. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Houten, S.M., Kuis, W., Duran, M., de Koning, T.J., van Royen-Kerkhof, A., Romeijn, G.J., Frenkel, J., Dorland, L., de Barse, M.M., Huijbers, W.A., Rijkers, G.T., Waterham, H.R., Wanders, R.J., Poll-The, B.T. Nat. Genet. (1999) [Pubmed]
  25. Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. Schafer, B.L., Bishop, R.W., Kratunis, V.J., Kalinowski, S.S., Mosley, S.T., Gibson, K.M., Tanaka, R.D. J. Biol. Chem. (1992) [Pubmed]
  26. Isolation and characterization of a novel trans-factor for luteinizing hormone receptor mRNA from ovary. Nair, A.K., Menon, K.M. J. Biol. Chem. (2004) [Pubmed]
  27. Peroxisomes in the apocrine sweat glands of the human axilla and their putative role in pheromone production. Rothardt, G., Beier, K. Cell. Mol. Life Sci. (2001) [Pubmed]
  28. Characterization of the mevalonate kinase 5'-untranslated region provides evidence for coordinate regulation of cholesterol biosynthesis. Bishop, R.W., Chambliss, K.L., Hoffmann, G.F., Tanaka, R.D., Gibson, K.M. Biochem. Biophys. Res. Commun. (1998) [Pubmed]
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