S-adenosylhomocysteine hydrolase (AHCY) deficiency: Two novel mutations with lethal outcome

Human Mutation

Volumn 30, Issue 4, 2009, Pages

  Vugrek, Oliver ^a,c   Belužić, Robert ^a   Nakić, Nikolina ^a,b  

^a RUDER BO KOVI INSTITUTE   (Croatia)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^c Division of Molecular Medicine   (Croatia)

Author keywords

AHCY; Genotype phenotype; Intermolecular disulphide bond; NADH

Indexed keywords

ADENOSYLHOMOCYSTEINASE; ARGININE; ASPARTIC ACID; CYSTEINE; DITHIOTHREITOL; GLYCINE; MUTANT PROTEIN; OLIGONUCLEOTIDE; RECOMBINANT PROTEIN;

ADENOSYLHOMOCYSTEINASE DEFICIENCY; AMINO ACID SUBSTITUTION; ARTICLE; DISULFIDE BOND; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME INACTIVATION; GEL FILTRATION CHROMATOGRAPHY; HUMAN; HYDROLYSIS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STABILITY; SITE DIRECTED MUTAGENESIS;

ADENOSYLHOMOCYSTEINASE; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ESCHERICHIA COLI; FATAL OUTCOME; FEMALE; HUMANS; INFANT; KINETICS; MUTATION; RECOMBINANT PROTEINS;

EID: 63749124310     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20985     Document Type: Article

References (21)

1. Ault-Riche DB, Yuan CS, Borchardt RT. 1994. A single mutation at lysine 426 of human placental S-adenosylhomocysteine hydrolase inactivates the enzyme. J Biol Chem 269: 31472-31478.
2. Barić I, Fumić K, Glenn B, Ćuk M, Schulze A, Finkelstein JD, Jill James S, Mejaški-Bošnjak V, Pažanin L, Pogribny IP, Radoš M, Sarnavka V, Šćukanec-Špoljar M, Allen RH, Stabler S, Uzelac L, Vugrek O, Wagner C, Zeisel S, Mudd SH. 2004. S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism. Proc Natl Acad Sci USA 101: 4234-4239
3. Barić I, Ćuk M, Fumić K, Vugrek O, Allen RH, Glenn B, Maradin M, Pažanin L, Pogribny I, Radoš M, Sarnavka V, Schulze A, Stabler S, Wagner C, Zeisel S, Mudd SH. 2005. S-Adenosylhomocysteine hydrolase deficiency: A second patient, the /younger brother of the index patient, and outcomes during therapy. J Inh Metab Dis 28: 885-902
4. Belužić R, Ćuk M, Pavkov T, Fumić K, Barić I, Mudd SH, Jurak I, Vugrek O. 2006. A single mutation at tyrosine 143 of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and effects the oxidation state of bound co-factor NAD. Biochem J 400: 245-253
5. Belužić R, Ćuk M, Pavkov T, Barić I, Vugrek O. 2008. S-Adenosylhomocysteine hydrolase (AdoHcyase) deficiency: Enzymatic capabilities of human AdoHcyase are highly effected by changes to codon 89 and its surrounding residues. Biochem Biophys Res Commun 368: 30-36
6. Buist NRM, Glenn B, Vugrek O, Wagner C, Stabler S, Allen RH, Pogribny I, Schulze A, Zeisel SH, Barić I, Mudd SH. 2006.
7. S-Adenosylhomocysteine hydrolase deficiency in a 26-year-old man. J Inh Metab Dis 29: 538-545
8. Chothia CJ. 1976. The nature of the accessible and buried surfaces in proteins. Mol Biol 105: 1-14
9. Ćuk M, Lovrić M, Fumić K, Vugrek O, Mudd SH, Sarnavka V, Barić I. 2007. The fourth S-adenosylhomocysteine hydrolase deficient patient: Further evidence of congenital myopathy. Clin Chem Lab Med 45: A43
10. Dela Haba G, Cantoni GL. 1959. The enzymatic synthesis of S-Adenosyl-L-homocysteine from adenosine and homocysteine. J Biol Chem 234: 603-608.
11. de Marco A, Vigh L, Diamant S, Goloubinoff P. 2005. Native folding of aggregation-prone recombinant proteins in Escherichia coli by osmolytes, plasmid - or benzyl alcohol-overexpressed molecular chaperones. Cell Stress & Chaperones 10: 329-339
12. Gomi T, Date T, Ogawa H, Fujioka M, Aksamit RR, Backlund Jr. PS, Cantoni GL. 1989. Expression of rat liver S-adenosylhomocysteinase cDNA in Escherichia coli and mutagenesis at the putative NAD binding site. J Biol Chem 264: 16138-16142.
13. Gomi T, Takata Y, Date T, Fujioka M, Aksamit RR, Backlund Jr. PS, Cantoni GL. 1990. Site-directed mutagenesis of rat liver Sadenosylhomocysteinase: Effect of conversion of aspartic acid 244 to glutamic acid on coenzyme binding. J Biol Chem 265: 16102-16107
14. Hu Y, Komoto J, Huang Y, Gomi T, Ogawa H, Takata Y, Fujioka M, Takusagawa F. 1999. Crystal structure of S-adenosylhomocysteine hydrolase from rat liver. Biochemistry 38: 8323-8333.
15. Kim J, Robinson AS. 2006. Dissociation of intermolecular disulfide bonds in P22 tailspike protein intermediates in the presence of SDS. Protein Sci 15: 1791-1793
16. Komoto J, Huang Y, Gomi T, Ogawa H, Takata Y, Fujioka M, Takusagawa, F. 2000. J Biol Chem 275: 32147-32156
17. Takata Y, Yamada T, Huang Y, Komoto J, Gomi T, Ogawa H, Fujioka M, Takusagawa F. 2002. Catalytic mechanism of S-adenosylhomocysteine hydrolase: Site-directed mutagenesis of Asp-130, Lys-185, Asp-189, and Asn-190. J Biol Chem 277: 22670-22676
18. Turner MA, Yuan CS, Borchardt RT, Hershfield MS, Smith GD, Howell PL. 1998. Structure determination of selenomethionyl S-adenosylhomocysteine hydrolase using data at a single wavelength. Nat Struct Biol 5: 369-376.
19. Yamada T, Takata Y, Komoto J, Huang Y, Gomi T, Ogawa H, Fujioka M, Takusagawa F. 2005. Catalytic mechanism of S-adenosylhomocysteine hydrolase: Roles of His 54, Asp130, Glu155, Lys185, and Aspl89. Int J Biochem Cell Biol 37: 24172435
20. Yang X, Hu Y, Yin DH, Turner MA, Wang M, Borchardt RT, Howell PL, Kuczera K, Schowen RL. 2003. Catalytic strategy of S-adenosyl-L-homocysteine hydrolase: Transition-state stabilization and the avoidance of abortive reactions. Biochemistry 42: 1900-1909.
21. Zamyatnin AA. 1971. Protein volume in solution. Prog Biophys Mol Biol 24: 107-123