Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer

Journal of Medical Genetics

Volumn 43, Issue 9, 2006, Pages 755-762

  Pithukpakorn, M ^a,b   Wei, M H ^b,c   Toure, O ^b   Steinbach, P J ^d   Glenn, G M ^b   Zbar, B ^b   Linehan, W M ^b   Toro, Jorge R ^b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

^c SAIC FREDERICK INC   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARATE HYDRATASE;

ARTICLE; CANCER CELL CULTURE; CONTROLLED STUDY; ENZYME ACTIVITY; FAMILY STUDY; FIBROBLAST; GENE MUTATION; GENETIC PREDISPOSITION; HUMAN; HUMAN CELL; KIDNEY CANCER; KIDNEY CARCINOMA; LEIOMYOMATOSIS; LYMPHOBLASTOID CELL; MISSENSE MUTATION; MUSCLE TUMOR; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SKIN TUMOR; UTERUS TUMOR;

AMINO ACID SEQUENCE; CARCINOMA, RENAL CELL; CASE-CONTROL STUDIES; CELLS, CULTURED; FIBROBLASTS; FUMARATE HYDRATASE; HUMANS; LEIOMYOMATOSIS; LYMPHOCYTES; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASTIC SYNDROMES, HEREDITARY; PEDIGREE; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 33749249394     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.041087     Document Type: Article

References (27)

1. Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen LA. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci USA 2001;98:3387-92.
2. Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, German P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomaki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002;30:406-10.
3. Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N, Choyke P, Stratton P, Merino M, Walther MM, Linehan WM, Schmidt LS, Zbar B. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 2003;73:95-106.
4. Wei MH, Toure O, Glenn GM, Pithukpakorn M, Neckers L, Stolle C, Choyke P, Grubb R, Middelton L, Turner ML, Walther MM, Merino MJ, Zbar B, Linehan WM, Toro JR. Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet 2006;43:18-27.
5. Woods SA, Miles JS, Roberts RE, Guest JR. Structural and functional relationships between fumarase and aspartase. Nucleotide sequences of the fumarase (fumC) and aspartase (aspA) genes of Escherichia coli K12. Biochem J 1986;237:547-57.
6. Simpson A, Bateman O, Driessen H, Lindley P, Moss D, Mylvaganam S, Narebor E, Slingsby C. The structure of avion eye lens delta-crystallin reveals a new fold for a superfamily of oligomeric enzymes. Nat Struct Biol 1994;1:724-34.
7. Weaver TM, Levitt DG, Donnelly MI, Stevens PP, Babaszak LJ. The multisubunit active site of fumarase C from Escherichia coli. Nat Struct Biol 1995;2:654-62.
8. Weaver T, Banaszak L. Crystallographic studies of the catalytic and a second site in fumarase C from Escherichia coli. Biochemistry 1996;35:13955-65.
9. Frisan T, Levitsky V, Masucci M. Generation of lymphoblastoid cell lines (LCLs). Methods Mol Biol 2001;174:125-7.
10. Srere PA, Brazil H, Gonen L. The citrate condensing enzyme of pigeon breast muscles and moth flight muscles. Acta Chem Scand 1963;17:S129-34.
11. WHO Scientific Group. Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. Report of a WHO Scientific Group. WHO Teen Rep Ser 1967;366:1-53.
12. Smith PK, Krohn RI, Hermanson GT, et al. Measurement of protein using bicinchoninic acid. Anal Biochem 1985; 150:76-85.
13. Hatch MD. A simple spectrophotometric assay for fumarate hydratase in crude tissue extracts. Anal Biochem 1978;85:271-5.
14. Levitt M. Accurate modeling of protein conformation by automatic segment matching. J Mol Biol 1992;226:507-33.
15. Brooks BR, Bruccoleri RE, Olafson BD, States D, Swaminathan S, Kerplus M. CHARMM: a program for macromolecular energy, minimization, and dynamics calculations. J Comput Chem 1983;4:187-217.
16. Petrova-Benedict R, Robinson BH, Stacey TE, Mistry J, Chalmers RA. Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing. Am J Hum Genet 1987;40:257-66.
17. Coughlin EM, Christensen E, Kunz PL, Krishnamoorthy KS, Walker V, Dennis NR, Chalmers RA, Elpeleg ON, Whelan D, Pollitt RJ, Ramesh V, Mandell R, Shih VE. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab 1998;63:254-62.
18. Akiba T, Hiraga K, Tuboi S. Intracellular distribution of fumarase in various animals. J Biochem (Tokyo) 1984;96:189-95.
19. Knox C, Sass E, Neupert W, Pines O. Import into mitochondria, folding and retrograde movement of fumarase in yeast. J Biol Chem 1998;273:25587-93.
20. Sass E, Karniely S, Pines O. Folding of fumarase during mitochondrial import determines its dual targeting in yeast. J Biol Chem 2003;278:45109-16.
21. Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M, MacDonald-Hull SP, Potts ED, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A, Mann RJ, Grice K, Guillet G, Lewis-Jones MS, McGrath H, Seukeran DC, Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S, Tomlinson IP. Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 2003;12:1241-52.
22. Isaacs JS, Jung YJ, Mole DR, Lee S, Torres-Cabala C, Chung YL, Merino M, Trepel J, Zbar B, Toro J, Ratcliffe PJ, Linehan WM, Neckers L. HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: Novel role of fumarate in regulation of HIF stability. Cancer Cell 2005;8:143-53.
23. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW, Cornelisse CJ, Devilee P, Devlin B. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000;287:848-51.
24. Baysal BE. On the association of succinate dehydrogenase mutations with hereditary paraganglioma. Trends Endocrinol Metab 2003;14:453-9.
25. Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peczkowska M, Morrison CD, Lehtonen R, Januszewicz A, Jarvinen H, Juhola M, Mecklin JP, Pukkala E, Herva R, Kiuru M, Nupponen NN, Aaltonen LA, Neumann HP, Eng C. Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet 2004;74:153-9.
26. Pollard PJ, Briere JJ, Alam NA, Barwell J, Barclay E, Wortham NC, Hunt T, Mitchell M, Olpin S, Moat SJ, Hargreaves IP, Heales SJ, Chung YL, Griffiths JR, Dalgleish A, McGrath JA, Gleeson MJ, Hodgson SV, Poulsom R, Rustin P, Tomlinson IP. Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. Hum Mol Genet 2005;14:2231-9.
27. Selak MA, Armour SM, MacKenzie ED, Boulahbel H, Watson DG, Mansfield KD, Pan Y, Simon MC, Thompson CB, Gottlieb E. Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase. Cancer Cell 2005;7:77-85.