Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion(381 views) Esposito G, Imperato MR, Ieno L, Sorvillo R, Benigno V, Parenti G, Parini R, Vitagliano L, Zagari A, Salvatore F
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2010 Dec; 31(12): 1294-1303.
CEINGE-Biotecnologie Avanzate S.C.a r.l., Napoli, Italy
Dipartimento di Biochimica e Biotecnologie Mediche, Università degli Studi di Napoli Federico II Napoli, Italy
IRCCS-Fondazione SDN, Via E. Gianturco 113, 80143 Napoli, Italy
Unità Operativa di Pediatria, Ospedale S. Giovanni di Dio, Agrigento, Italy
Dipartimento di Pediatria, Università degli Studi di Napoli Federico II Napoli, Italy
Clinica Pediatrica, Ospedale S. Gerardo, Monza, Italy
Istituto di Biostrutture e Bioimmagini, CNR, Napoli, Italy
Dipartimento delle Scienze Biologiche-Sezione Biostrutture e CNISM, Università degli Studi di Napoli Federico II Napoli, Italy
Unit Operativa di Pediatria, Ospedale S. Giovanni di Dio, Agrigento, Italy
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Brooks, C. C., Buist, N., Tuerck, J., Tolan, D. R., Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance (1991) Am J Hum Genet, 49, pp. 1075-1081
Brooks, C. C., Tolan, D. R., A partially active mutant aldolase B from a patient with hereditary fructose intolerance (1994) FASEB J, 8, pp. 107-113
Catto-Smith, A. G., Adams, A., A possible case of transient hereditary fructose intolerance (1993) J Inherit Metab Dis, 16, pp. 73-77
Choi, K. H., Mazurkie, A. S., Morris, A. J., Utheza, D., Tolan, D. R., Allen, K. A., Structure of a fructose-1, 6-bis (phosphate) aldolase liganded to its natural substrate in a cleavage-defective mutant at 2. 3 (1999) Biochemistry, 38, pp. 12655-12664
Choi, K. H., Shi, J., Hopkins, C. E., Tolan, D. R., Allen, K. N., Snapshots of catalysis: the structure of fructose-1, 6- (bis) phosphate aldolase covalently bound to the substrate dihydroxyacetone phosphate (2001) Biochemistry, 40, pp. 13868-13875
Choi, Y. K., Johlin, F. C., Summers, R. W., Jackson, M., Rao, S. S. C., Fructose intolerance: an under-recognized problem (2003) Am J Gastroenterol, 98, pp. 1348-1353
Coffee, E. M., Yerkes, L., Ewen, E. P., Zee, T., Tolan, D. R., Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population (2009) J Inherit Metab Dis, 33, pp. 33-42
Cox, T. M., The genetic consequences of our sweet tooth (2002) Nat Rev Genet, 3, pp. 481-487
Cross, N. C., Cox, T. M., Partial aldolase B gene deletion in hereditary fructose intolerance (1990) Am J Hum Genet, 47, pp. 101-106
Cross, N. C., Stojanov, L. M., Cox, T. M., A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia (1990) Nucleic Acids Res, 18, p. 1925
Cross, N. C., Tolan, D. R., Cox, T. M., Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation (1988) Cell, 53, pp. 881-885
Dalby, R. D., Tolan, D. R., Littlechild, J. A., The structure of human liver fructose-1, 6-bisphosphate aldolase (2001) Acta Cryst D Biol Crystallogr, 57, pp. 1526-1533
Hutchinson, E. G., Thornton, J. M., PROMOTIF-a program to identify and analyze structural motifs in proteins (1996) Protein Sci, 5, pp. 212-220
James, C. L., Rellos, P., Ali, M., Heeley, A. F., Cox, T. M., Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population (1996) J Med Genet, 33, pp. 837-841
Jones, T. A., Zou, J. Y., Cowan, S. W., Kjeldgaard, M., Improved methods for building proteins models in electron density maps and the location of errors in these models (1991) Acta Crystallogr sect A, 47, pp. 110-119
Kriegsh user, G., Halsall, D., Rauscher, B., Oberkanins, C., Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance (2007) Mol Cell Probes, 21, pp. 226-228
Laskowski, R. A., MacArthur, M. W., Moss, D. S., Thornton, J. M., PROCHECK: a program to check the stereochemical quality of protein structures (1993) J Appl Crystallogr, 26, pp. 283-291
Malay, A. D., Allen, K. N., Tolan, D. R., Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance (2005) J Mol Biol, 347, pp. 135-144
Pezza, J. A., Choi, K. H., Berardini, T. Z., Beernink, P. T., Allen, K. N., Tolan, D. R., Spatial clustering of isozyme-specific residues reveals unlikely determinants of isozyme specificity in fructose-1, 6-bisphosphate aldolase (2003) J Biol Chem, 278, pp. 17907-17919
Stenson, P. D., Ball, E. V., Mort, M., Phillips, A. D., Shiel, J. A., Thomas, N. S., Abeysinghe, S., Cooper, D. N., The Human Gene Mutation Database (HGMD): 2003 update (2003) Hum Mutat, 21, pp. 577-581
Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion
Hereditary fructose intolerance (HFI) is an autosomal recessive metabolic disease caused by impaired functioning of human liver aldolase (ALDOB). At least 54 subtle/point mutations and only two large intragenic deletions have been found in the ALDOB gene. Here we report two novel ALDOB variants (p.R46W and p.Y343H) and an intragenic deletion that we found in patients with suspected HFI. The residual catalytic activity of the recombinant p.R46W and p.Y343H variants toward F1P was particularly altered. We also characterized a large intragenic deletion that we found in six unrelated patients. This is the first report of six unrelated patients sharing the same ALDOB deletion, thus indicating a founder effect for this allele in our geographic area. Because this deletion involves ALDOB exon 5, it can mimic worldwide common pathogenic genotypes, that is, homozygous p.A150P and p.A175D. Finally, the identification of only one ALDOB mutation in symptomatic patients suggests that HFI symptoms can, albeit rarely, appear also in heterozygotes. Therefore, an excessive and continuous fructose dietary intake may have deleterious effects even in apparently asymptomatic HFI carriers. Hum Mutat 31:1294-1303, 2010. (c) 2010Wiley-Liss, Inc.
Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion
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Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion