A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency

Journal of Molecular Medicine

Volumn 82, Issue 8, 2004, Pages 550-554

  Remes, Anne M ^a   Filppula, Sirpa A ^a   Rantala, Heikki ^a   Leisti, Jaakko ^a   Ruokonen, Aimo ^a   Sharma, Satyan ^a   Juffer, André H ^a   Hiltunen, J Kalervo ^a  

^a UNIVERSITY OF OULU   (Finland)

Author keywords

Autosomal recessive; Fumarate hydratase; Mutation

Indexed keywords

COMPLEMENTARY DNA; FUMARATE HYDRATASE; GLUTAMINE; NUCLEOTIDE; PROLINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CASE REPORT; CATALYSIS; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FUMARASE DEFICIENCY; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE;

AMINO ACID SEQUENCE; CATALYTIC DOMAIN; CHILD; CHILD, PRESCHOOL; FUMARATE HYDRATASE; HUMANS; MALE; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; POINT MUTATION; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT;

EID: 4344645097     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-004-0563-y     Document Type: Article

References (17)

1. Someren H van, van Henegouven HB, Westerveld A, Bootsma D (1974) Synteny of the human loci for fumarate hydratase and UPDG pyrophosphorylase with chromosome 1 markers in somatic cell hybrids. Cytogenet Cell Genet 13:551-557
2. Tolley E, Craig J (1975) Presence of two forms of fumarase (fumarate hydratase EC 4.2.1.2.) in mammalian cells: immunological characterization and genetic analysis in somatic cell hybrids: conformation of the assignment of a gene necessary for the enzyme expression to human chromosome 1. Biochem Genet 13:866-883
3. Suzuki T, Salo M, Yoshida T, Tubri S (1989) Rat liver mitochondrial and cytosolic fumarases with identical amino acid sequences are encoded from a single gene. J Biol Chem 264:2581-2586
4. Kinsella BT Doonan S (1986) Nucleotide sequence of a cDNA coding for the mitochondrial fumarase from human liver. Biosci Rep 6:921-929
5. Zinn AB, Kerr DS, Hoppel CL (1986) Fumarase deficiency: a new cause of mitochondrial encephalopathy. N Engl J Med 315:469-475
6. Gellera C, Uziel G, Rimoldi M, Zeviani M, Laverda A, Carrara F, DiDonato S (1990) Fumarase deficiency in an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology 40:495-499
7. Remes AM, Rantala H, Hiltunen JK, Leisti J, Ruokonen A (1992) Fumarase deficiency: Two siblings with enlarged cerebral ventricles and polyhydramnions in utero. Pediatrics 89:730-734
8. 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 2514-2518
9. 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
10. Eng C, Kiuru M, Fernandez J, Aaltonen LA (2003) A role for mitochondrial enzymes in inherited neoplasia and beyond. Cancer 3:193-202
11. Berendsen HJC, van der Spoel, D, van Drunen R (1995) GROMACS: A message-passing parallel molecular dynamics implementation. Comp Phys Commun 91:43-56
12. Lindahl E, Hess B, van der Spoel D (2001) GROMACS 3.0: A package for molecular simulation and trajectory analysis. J Mol Model (Online) 7:306-317
13. Berendsen HJC, Postma JPM, van Gunsteren WF, Hermans J (1981) Interaction models for water in relation to protein hydration. In: Pullman B (ed) Intermolecular forces. Reidel, Dordrecht, pp 331-342
14. Darden T, York D, Pedersen L (1993) Particle mesh Ewald: An N-log (N) method for Ewald sums in large systems. J Chem Phys 103:10089-10092
15. Hess B, Bekker H, Berendsen HJC, Fraaije JGEM (1997) LINCS: a linear constraint solver for molecular simulations. J Comp Chem 18:1463-1473
16. Miyamoto S, Kollman PA (1992) SETTLE: an analytical version of the SHAKE and RATTLE algorithms for rigid water models. J Comp Chem 13:952-962
17. Tomlinson IPM, 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, Multiple Leiomyoma Consortium (2002) Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 30:406-410