Structural basis of fumarate hydratase deficiency

Journal of Inherited Metabolic Disease

Volumn 34, Issue 3, 2011, Pages 671-676

  Picaud, Sarah ^a   Kavanagh, Kathryn L ^a   Yue, Wyatt W ^a   Lee, Wen Hwa ^a   Muller Knapp, Susanne ^a   Gileadi, Opher ^a   Sacchettini, James ^b   Oppermann, Udo ^a,c  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b TEXAS A AND M UNIVERSITY   (United States)

^c NIHR OXFORD BIOMEDICAL RESEARCH CENTRE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARATE HYDRATASE; FUMARIC ACID; MALIC ACID;

ARTICLE; BRAIN DISEASE; CANCER SUSCEPTIBILITY; CATALYSIS; CITRIC ACID CYCLE; CRYSTAL STRUCTURE; CYTOSOL; DISEASE SEVERITY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME LOCALIZATION; ENZYME STRUCTURE; FUMARATE HYDRATASE DEFICIENCY; GENE MUTATION; HETEROZYGOTE; HUMAN; KIDNEY CANCER; MITOCHONDRION; PHENOTYPE; PROTEIN EXPRESSION; SEIZURE; SKIN TUMOR; STRUCTURE ACTIVITY RELATION; STRUCTURE ANALYSIS; UTERUS MYOMA;

CATALYTIC DOMAIN; CRYSTALLOGRAPHY, X-RAY; FUMARATE HYDRATASE; HUMANS; METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; MODELS, MOLECULAR; MUTANT PROTEINS; MUTATION; PROTEIN CONFORMATION; PROTEIN FOLDING; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 79959791716     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9294-8     Document Type: Article

References (35)

1. Alam NA, Olpin S, Leigh IM (2005a) Fumaratehydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. Br J Dermatol 153:11-17 (Pubitemid 41044521)
2. Alam NA, Olpin S, Rowan A, Kelsell D, Leigh IM, Tomlinson IP, Weaver T (2005b) Missense mutations in fumaratehydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. J Mol Diagn 7:437-443 (Pubitemid 41479710)
3. Badeloe S, van Geel M, van Steensel MA, Bastida J, Ferrando J, Steijlen PM, Frank J, Poblete-Gutierrez P (2006) Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumaratehydratase gene and review of the literature. Exp Dermatol 15:735-741 (Pubitemid 44145243)
4. Bayley JP, Launonen V, Tomlinson IP (2008) The FH mutation database: an online database of fumaratehydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet 9:20
5. Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze P, Munnich A, Rotig A, Landrieu P, Rustin P (1994) Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest 93:2514-2518 (Pubitemid 24177166)
6. Carvajal-Carmona LG, Alam NA, Pollard PJ, Jones AM, Barclay E, Wortham N, Pignatelli M, Freeman A, Pomplun S, Ellis I, Poulsom R, El-Bahrawy MA, Berney DM, Tomlinson IP (2006) Adult leydig cell tumors of the testis caused by germlinefumaratehydratase mutations. J Clin Endocrinol Metab 91:3071-3075
7. CCP4 (1994) The CCP4 suite: programs for protein crystallography. Acta Crystallogr D Biol Crystallogr 50:760-763
8. Chan I, Wong T, Martinez-Mir A, Christiano AM, McGrath JA (2005) Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. Clin Exp Dermatol 30:75-78 (Pubitemid 40188325)
9. Chuang GS, Martinez-Mir A, Geyer A, Engler DE, Glaser B, Cserhalmi-Friedman PB, Gordon D, Horev L, Lukash B, Herman E, Cid MP, Brenner S, Landau M, Sprecher E, Garcia Muret MP, Christiano AM, Zlotogorski A (2005) Germlinefumaratehydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. J Am Acad Dermatol 52:410-416
10. 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 (1998) Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab 63:254-262 (Pubitemid 28455902)
11. Deschauer M, Gizatullina Z, Schulze A, Pritsch M, Knoppel C, Knape M, Zierz S, Gellerich FN (2006) Molecular and biochemical investigations in fumarase deficiency. Mol Genet Metab 88:146-152
12. Emsley P, Cowtan K (2004) Coot: model-building tools for molecular graphics. Acta Crystallogr D Biol Crystallogr 60:2126-2132 (Pubitemid 41742764)
13. Heinritz W, Paasch U, Sticherling M, Wittekind C, Simon JC, Froster UG, Renner R (2008) Evidence for a founder effect of the germlinefumaratehydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). Ann Hum Genet 72:35-40
14. Kerrigan JF, Aleck KA, Tarby TJ, Bird CR, Heidenreich RA (2000) Fumaric aciduria: clinical and imaging features. Ann Neurol 47:583-588 (Pubitemid 30261893)
15. King A, Selak MA, Gottlieb E (2006) Succinate dehydrogenase and fumaratehydratase: linking mitochondrial dysfunction and cancer. Oncogene 25:4675-4682 (Pubitemid 44187617)
16. Kiuru M, Lehtonen R, Arola J, Salovaara R, Jarvinen H, Aittomaki K, Sjoberg J, Visakorpi T, Knuutila S, Isola J, Delahunt B, Herva R, Launonen V, Karhu A, Aaltonen LA (2002) Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. Cancer Res 62:4554-4557
17. Lehtonen R, Kiuru M, Vanharanta S, Sjoberg J, Aaltonen LM, Aittomaki K, Arola J, Butzow R, Eng C, Husgafvel-Pursiainen K, Isola J, Jarvinen H, Koivisto P, Mecklin JP, Peltomaki P, Salovaara R, Wasenius VM, Karhu A, Launonen V, Nupponen NN, Aaltonen LA (2004) Biallelic inactivation of fumaratehydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. Am J Pathol 164:17-22 (Pubitemid 38364585)
18. McCoy AJ, Grosse-Kunstleve RW, Storoni LC, Read RJ (2005) Likelihood-enhanced fast translation functions. Acta Crystallogr D Biol Crystallogr 61:458-464 (Pubitemid 43934606)
19. Manning NJ, Olpin SE, Pollitt RJ, Downing M, Heeley AF, Young ID (2000) Fumaratehydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies. J Inherit Metab Dis 23:757-759
20. Maradin M, Fumic K, Hansikova H, Tesarova M, Wenchich L, Dorner S, Sarnavka V, Zeman J, Baric I (2006) Fumaricaciduria: mild phenotype in a 8-year-old girl with novel mutations. J Inherit Metab Dis 29:683
21. Martinez-Mir A, Glaser B, Chuang GS, Horev L, Waldman A, Engler DE, Gordon D, Spelman LJ, Hatzibougias I, Green J, Christiano AM, Zlotogorski A (2003) Germlinefumaratehydratase mutations in families with multiple cutaneous and uterine leiomyomata. J Invest Dermatol 121:741-744 (Pubitemid 37239116)
22. Murshudov GN, Vagin AA, Dodson EJ (1997) Refinement of macromolecular structures by the maximum-likelihood method. Acta Crystallogr D Biol Crystallogr 53:240-255 (Pubitemid 27235885)
23. Perrakis A, Morris R, Lamzin VS (1999) Automated protein model building combined with iterative structure refinement. Nat Struct Biol 6:458-463 (Pubitemid 29218016)
24. Phillips TM, Gibson JB, Ellison DA (2006) Fumaratehydratase deficiency in monozygotic twins. Pediatr Neurol 35:150-153
25. 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 (2005) Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. Hum Mol Genet 14:2231-2239 (Pubitemid 41418022)
26. Ratcliffe PJ (2007) Fumaratehydratase deficiency and cancer: activation of hypoxia signaling? Cancer Cell 11:303-305
27. Remes AM, Filppula SA, Rantala H, Leisti J, Ruokonen A, Sharma S, Juffer AH, Hiltunen JK (2004) A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency. J Mol Med 82:550-554 (Pubitemid 39149864)
28. Rose IA, Weaver TM (2004) The role of the allosteric B site in the fumarase reaction. Proc Natl Acad Sci U S A 101:3393-3397 (Pubitemid 38338205)
29. Rustin P, Bourgeron T, Parfait B, Chretien D, Munnich A, Rotig A (1997) Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. Biochim Biophys Acta 1361:185-197 (Pubitemid 27362092)
30. Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman 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 (2002) Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 30:406-410
31. 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 (2003) Mutations in the fumaratehydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 73:95-106 (Pubitemid 36793783)
32. 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 (2006) Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet 43:18-27 (Pubitemid 43099991)
33. Ylisaukko-oja SK, Cybulski C, Lehtonen R, Kiuru M, Matyjasik J, Szymanska A, Szymanska-Pasternak J, Dyrskjot L, Butzow R, Orntoft TF, Launonen V, Lubinski J, Aaltonen LA (2006) Germlinefumaratehydratase mutations in patients with ovarian mucinous cystadenoma. Eur J Hum Genet 14:880-883 (Pubitemid 43923375)
34. Zeman J, Krijt J, Stratilova L, Hansikova H, Wenchich L, Kmoch S, Chrastina P, Houstek J (2000) Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment. J Inherit Metab Dis 23:371-374 (Pubitemid 30364774)
35. Zeng WQ, Gao H, Brueton L, Hutchin T, Gray G, Chakrapani A, Olpin S, Shih VE (2006) Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1. Am J Med Genet A 140:1004-1009