Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis

Human Molecular Genetics

Volumn 8, Issue 8, 1999, Pages 1523-1528

  Houten, S M ^a   Romeijn, G J ^a   Koster, J ^a   Gray, R G F ^b   Darbyshire, P ^b   Smit, G P A ^c   De Klerk, J B C ^d   Duran, M ^e   Gibson, K M ^f   Wanders, R J A ^a   Waterham, H R ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

^d SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; ENZYME ANTIBODY; GLUTATHIONE TRANSFERASE; HYBRID PROTEIN; ISOPRENE; MEVALONIC ACID; MEVALONIC ACID KINASE; MUTANT PROTEIN; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

ACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; ENZYME ACTIVITY; ESCHERICHIA COLI; FEMALE; FIBROBLAST; HUMAN; IMMUNOBLOTTING; MALE; METABOLIC DISORDER; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BUTADIENES; CHILD; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; ESCHERICHIA COLI; FATAL OUTCOME; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HEMITERPENES; HUMANS; IMMUNOBLOTTING; INFANT; MALE; MEVALONIC ACID; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PENTANES; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POINT MUTATION; SEQUENCE HOMOLOGY, AMINO ACID;

ESCHERICHIA COLI;

EID: 0032854744     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.8.1523     Document Type: Article

References (27)

1. Clayton, P.T. (1998) Disorders of cholesterol biosynthesis. Arch. Dis. Child., 78, 185-189.
2. Waterham, H.R., Wijburg, F.A., Hennekam, R.C.M., Vreken, P., Poll-The, B.T., Dorland, L., Duran, M., Jira, P.E., Smeijtink, J.A.M., Wevers, R.A. and Wanders, R.J.A. (1998) Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am. J. Hum. Genet., 63, 329-338.
3. Fitzky, B.U., Witsch-Baumgartner, M., Erdel, M., Lee, J.N., Paik, Y.-K., Glossmann, H. and Utermann, G. (1998) Mutations in the delta-7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc. Natl Acad. Sci. USA, 95, 8181-8186.
4. 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am. J. Hum. Genet., 63, 55-62.
5. Hoffmann, G, Gibson, K.M., Brandt, I.K., Bader, P.I., Wappner, R.S. and Sweetman, L. (1986) Mevalonic aciduria - an inborn error of cholesterol and nonsterol isoprene biosynthesis. N. Engl. J. Med., 314, 1610-1614.
6. Hoffmann, G.F., Charpentier, C., Mayatepek, E., Mancini, J., Leichsenring, M., Gibson, K.M., Divry, P., Hrebicek, M., Lehnert, W., Sartor, K., Trefz, F.K., Rating, D., Bremer, H.J. and Nyhan, W.L. (1993) Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics, 91, 915-921.
7. Hübner, C., Hoffmann, G.F., Charpentier, C., Gibson, K.M., Finckh, B., Puhl, H., Lehr, H.-A. and Kohlschütter, A. (1993) Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency. Pediatr. Res., 34, 129-133.
8. Schafer, B.L., Bishop, R.W., Kratunis, V.J., Kalinowski, S.S., Mosley, S.T., Gibson, K.M. and Tanaka, R.D. (1992) Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. J. Biol. Chem., 267, 13229-13238.
9. Hinson, D.D., Chambliss, K.L., Hoffmann, G.F., Krisans, S., Keller, R.K. and Gibson, K.M. (1997) Identification of an active site alanine in mevalonate kinase through characterisation of a novel mutation in mevalonate kinase deficiency. J. Biol. Chem., 272, 26756-26760.
10. Potter, D., Wojnar, J.M., Narasimhan, C. and Miziorko, H.M. (1997) Identification and functional characterisation of an active-site lysine in mevalonate kinase. J. Biol. Chem., 272, 5741-5746.
11. Subramani, S. (1996) Protein translocation into peroxisomes. J. Biol. Chem., 271, 32483-32486.
12. Biardi, L., Sreedhar, A., Zokaei, A., Vartak, N.B., Bozeat, R.L., Shackelford, J.E., Keller, G.-A. and Krisans, S.K. (1994) Mevalonate kinase is predominantly localised in peroxisomes and is defective in patients with peroxisome deficiency disorders. J. Biol. Chem., 269, 1197-1205.
13. Stamellos, K.D., Shackelford, J.E., Tanaka, R.D. and Krisans, S.K. (1992) Mevalonate kinase is localised in rat liver peroxisomes. J. Biol. Chem., 267, 5560-5568.
14. Wanders, R.J.A. and Romeijn, G.J. (1996) Cholesterol biosynthesis in Zellweger syndrome: normal activity of mevalonate kinase, mevalonate-5′-pyrophosphate decarboxylase and IPP-isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver. J. Inherit. Metab. Dis., 19, 193-196.
15. Wanders, R.J.A. and Romeijn, G.J. (1998) Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis. Biochem. Biophys. Res. Commun., 247, 663-667.
16. Braverman, N., Steel, G., Obie, C., Moser, A.B., Moser, H.W., Gould, S.J. and Valle, D. (1997) Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nature Genet., 15, 369-376.
17. Motley, A.M., Hettema, E.H., Hogenhout, E.M., Brites, P., Ten Asbroek, A.L., Wijburg, F.A., Baas, F., Heijmans, H.S.A., Tabak, H.F., Wanders, R.J.A. and Distel, B. (1997) Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nature Genet., 15, 377-380.
18. Purdue, P.E., Zhang, J.W., Skoneczny, M. and Lazarow, P.B. (1997) Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nature Genet., 15, 381-384.
19. Potter, D. and Miziorko, H.M. (1997) Identification of catalytic residues in human mevalonate kinase. J. Biol. Chem., 272, 25449-25454.
20. De Klerk, J.B.C., Duran, M., Dorland, L., Brouwers, H.A.A., Bruinvis, L. and Ketting, D. (1988) A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis. J. Inherited Metab. Dis., 11 (Suppl. 2), 233-236.
21. Berger, R., Smit, G.P.A., Schierbeek, H., Bijsterveld, K. and Le Coultre, R. (1985) Mevalonic aciduria: an inborn error of cholesterol biosynthesis? Clin. Chim. Acta, 152, 219-222.
22. Gibson, K.M., Hoffmann, G. and Nyhan, W.L. (1988) Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. Eur. J. Pediatr., 148, 250-252.
23. IJlst, L., Wanders, R.J.A., Ushikubo, S., Kamijo, T. and Hashimoto, T. (1994) Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease causing mutation in the α-subunit of the mitochondrial trifunctional protein. Biochim. Biophys. Acta, 1215, 347-350.
24. Hoffmann, G.F., Brendel, S.U., Scharfschwerdt, S.R., Shin, Y.S., Speidel, I.M. and Gibson, K.M. (1992) Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. J. Inherit. Metab. Dis., 15, 738-746.
25. Habig, W.H., Pabst, M.J. and Jakoby, W.B. (1974) Glutathione S-transferases. The first enzymatic step in mercapturic acid formation. J. Biol. Chem., 249, 7130-7139.
26. Raymond, C.K., O'Hara, P.J., Eichinger, G., Rothman, J.H. and Stevens, T.H. (1990) Molecular analysis of the yeast VPS3 gene and the role of its product in vacuolar protein sorting and vacuolar segregation during the cell cycle. J. Cell. Biol., 111, 877-892.
27. Kyhse-Andersen, J. (1984) Electroblotting of multiple gels: a simple apparatus without buffertank for rapid transfer of proteins from polyacrylamide to nitrocellulose. J. Biochem. Biophys. Methods, 10, 203-209.