Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans

Molecular Genetics and Metabolism

Volumn 114, Issue 3, 2015, Pages 445-450

  Oppelt, Sarah A ^a   Sennott, Erin M ^a   Tolan, Dean R ^a,b  

^a BOSTON UNIVERSITY   (United States)

^b USA   (United States)

Author keywords

Hepatic; Inborn errors in metabolism; Liver failure; Obesity; Steatosis; Sugar metabolism

Indexed keywords

FRUCTOSE; FRUCTOSE BISPHOSPHATE ALDOLASE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; EMBRYO; FAILURE TO THRIVE; FEMALE; FRUCTOSE METABOLISM; GENE DELETION; GENOTYPE; HEREDITARY FRUCTOSE INTOLERANCE; HOMOZYGOSITY; KIDNEY DYSFUNCTION; LIVER DYSFUNCTION; LIVER FIBROSIS; MALE; MOUSE; NONALCOHOLIC FATTY LIVER; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; ANIMAL; DISEASE MODEL; GENETICS; HUMAN; KIDNEY; KNOCKOUT MOUSE; LIVER; METABOLISM; ULTRASTRUCTURE;

ANIMALIA; MUS; RODENTIA;

ANIMALS; DISEASE MODELS, ANIMAL; FRUCTOSE; FRUCTOSE INTOLERANCE; FRUCTOSE-BISPHOSPHATE ALDOLASE; HUMANS; KIDNEY; LIVER; MICE, KNOCKOUT; PHENOTYPE; SEQUENCE DELETION;

EID: 84924133141     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.01.001     Document Type: Article

References (46)

1. Anderson T.A. Recent trends in carbohydrate consumption Annu. Rev. Nutr. 1982, 2:113-132.
2. Ludwig D.S., Peterson K.E., Gortmaker S.L. Relation between consumption of sugar-sweetened drinks and childhood obesity: a prospective, observational analysis. Lancet 2001, 357:505-508.
3. Sun S.Z., Anderson G.H., Flickinger B.D., Williamson-Hughes P.S., Empie M.W. Fructose and non-fructose sugar intakes in the US population and their associations with indicators of metabolic syndrome. Food Chem. Toxicol. 2011, 49:2875-2882.
4. Gaby A.R. Adverse effects of dietary fructose. Altern. Med. Rev. 2005, 10:294-306.
5. Kuczmarski R.J., Flegal K.M., Campbell S.M., Johnson C.L. Increasing prevalence of overweight among US adults. The National Health and Nutrition Examination Surveys, 1960 to 1991. J. Am. Med. Assoc. 1960, 272(1994):205-211.
6. Wickelgren I. Obesity: how big a problem?. Science 1998, 280:1364-1367.
7. Tappy L., Le K.A. Metabolic effects of fructose and the worldwide increase in obesity. Physiol. Rev. 2010, 90:23-46.
8. Johnson R.J. The Fat Switch http://Mercola.com.
9. Masuzaki H., Paterson J., Shinyama H., Morton N.M., Mullins J.J., Seckl J.R., Flier J.S. A transgenic model of visceral obesity and the metabolic syndrome. Science 2001, 294:2166-2170.
10. Ishimoto T., Lanaspa M.A., Le M.T., Garcia G.E., Diggle C.P., Maclean P.S., Jackman M.R., Asipu A., Roncal-Jimenez C.A., Kosugi T., Rivard C.J., Maruyama S., Rodriguez-Iturbe B., Sanchez-Lozada L.G., Bonthron D.T., Sautin Y.Y., Johnson R.J. Opposing effects of fructokinase C and A isoforms on fructose-induced metabolic syndrome in mice. Proc. Natl. Acad. Sci. U. S. A. 2012, 109:4320-4325.
11. Steinmann B., Gitzelmann R., Van den Berghe G. Disorders of fructose metabolism. The Metabolic and Molecular Basis of Inherited Disease 2001, 1489-1520. McGraw-Hill, Inc., New York. C. Scriver, A. Beaudet, W. Sly, D. Valle (Eds.).
12. Santer R., Rischewski J., von Weihe M., Niederhaus M., Schneppenheim S., Baerlocher K., Kohlschutter A., Muntau A., Posselt H.G., Steinmann B., Schneppenheim R. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. Hum. Mutat. 2005, 25:594.
13. 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. J. Med. Genet. 1996, 33:837-841.
14. Gruchota J., Pronicka E., Korniszewski L., Stolarski B., Pollak A., Rogaszewska M., Ploski R. Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. Mol. Genet. Metab. 2006, 87:376-378.
15. 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. J. Inherit. Metab. Dis. 2009, 33:33-42.
16. Baerlocher K., Gitzelmann R., Steinmann B., Gitzelmann-Cumarumsay N. Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Helv. Paediat. Acta 1978, 33:465-487.
17. Laméire N., Mussche M., Baele G., Kint J., Ringoir S. Hereditary fructose intolerance: a difficult diagnosis in the adult. Am. J. Med. 1978, 65:416-423.
18. Morris R.C.J. An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis: its resemblance to the renal acidification defect associated with the Fanconi syndrome of children with cystinosis. J. Clin. Invest. 1968, 47:1648-1663.
19. Odièvre M., Gentil C., Gautier M., Alagille D. Hereditary fructose intolerance in childhood: diagnosis, management and course in 55 patients. Am. J. Dis. Child. 1978, 132:605-608.
20. Cox T.M. Iatrogenic deaths in hereditary fructose intolerance. Arch. Dis. Child. 1993, 69:415-423.
21. Van den Berghe G. Metabolic effects of fructose in the liver current topics in cell regulation 1978, 13:97-135.
22. Lanaspa M.A., Cicerchi C., Garcia G., Li N., Roncal-Jimenez C.A., Rivard C.J., Hunter B., Andres-Hernando A., Ishimoto T., Sanchez-Lozada L.G., Thomas J., Hodges R.S., Mant C.T., Johnson R.J. Counteracting roles of AMP deaminase and AMP kinase in the development of fatty liver. PLoS One 2012, 7:e48801.
23. Ali M., Rosien U., Cox T.M. DNA diagnosis of fatal fructose intolerance from archival tissue Quart. J. Med. 1993, 86:25-30.
24. Baerlocher K., Gitzelmann R., Nussli R., Dumermuth G. Infantile lactic acidosis due to hereditary fructose1,6-diphosphatase deficiency. Helv. Paediat. Acta 1971, 26:489-506.
25. Johnson R.J., Nakagawa T., Sanchez-Lozada L.G., Shafiu M., Sundaram S., Le M., Ishimoto T., Sautin Y.Y., Lanaspa M.A. Sugar, uric acid, and the etiology of diabetes and obesity. Diabetes 2013, 62:3307-3315.
26. Morris A.J., Tolan D.R. Site-directed mutagenesis identifies aspartate 33 as a previously unidentified critical residue in the catalytic mechanism of rabbit aldolase A. J. Biol. Chem. 1993, 268:1095-1100.
27. Marcus F., Hosey M.M. Purification and properties of liver fructose 1,6-bisphosphatase from C57BL/KsJ normal and diabetic mice. J. Biol. Chem. 1980, 255:2481-2486.
28. Bradford M.M. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal. Biochem. 1976, 72:248-254.
29. Sheehan D.C., Hrapchak B.B. Theory and practice of histotechnology 1980, Mosby, St. Louis.
30. Gitzelmann R., Steinmann B., Tuchschmid P. Patients with hereditary fructose intolerance have normal erythrocyte aldolase activity. Clin. Chim. Acta 1989, 181:163-166.
31. Lerner Z., Cooper M., Granot E., Hegesh E. Fructose-1-phosphate and fructose-1,6-bisphosphate aldolases in the small intestinal mucosa. Isr. J. Med. Sci. 1987, 23:185-187.
32. Raivio K., Perheentup J., Nikikila E.A. Aldolase activities in the liver in parents of patients with hereditary fructose intolerance. Clin. Chim. Acta 1967, 17:275-279.
33. Cornblath M., Schwartz R. Disorders of carbohydrate metabolism in infancy 1991, Blackwell Scientific Co., Cambridge, MA.
34. Long W.W., Pawel B., Morrow G. Pathological case of the month. Hereditary fructose intolerance. Arch. Pediatr. Adolesc. Med. 1997, 151:1165-1166.
35. Stormon M.O., Cutz E., Furuya K., Bedford M., Yerkes L., Tolan D.R., Feigenbaum A. A six month old infant with steatohepatitis. J. Pediatr. 2003, 144:258-263.
36. Lim J.S., Mietus-Snyder M., Valente A., Schwarz J.M., Lustig R.H. The role of fructose in the pathogenesis of NAFLD and the metabolic syndrome. Nat. Rev. Gastroenterol. Hepatol. 2010, 7:251-264.
37. Lustig R.H., Schmidt L.A., Brindis C.D. Public health: the toxic truth about sugar. Nature 2012, 482:27-29.
38. Wang Y., Zheng Y., Nishina P.M., Naggert J.K. A new mouse model of metabolic syndrome and associated complications. J. Endocrinol. 2009, 202:17-28.
39. Takahashi A., Tabuchi M., Suzuki W., Iizuka S., Nagata M., Ikeya Y., Takeda S., Shimada T., Aburada M. Insulin resistance and low sympathetic nerve activity in the Tsumura Suzuki obese diabetic mouse: a new model of spontaneous type 2 diabetes mellitus and obesity. Metab. Clin. Exp. 2006, 55:1664-1669.
40. Anstee Q.M., Goldin R.D. Mouse models in non-alcoholic fatty liver disease and steatohepatitis research. Int. J. Exp. Pathol. 2006, 87:1-16.
41. Koster J.F., Slee R.G., Slee J. On the biochemical basis of hereditary fructose intolerance. Biochem. Biophys. Res. Commun. 1975, 64:289-294.
42. Levin B., Snodgrass G.J., Oberholzer V.G., Burgess E.A., Dobbs R.H. Fructosaemia. Observations on seven cases. Am. J. Med. 1968, 45:826-838.
43. Steinmann B., Gitzelmann R. The diagnosis of hereditary fructose intolerance. Helv. Paediat. Acta 1981, 36:297-316.
44. Hers H.-G., Joassin G. Anomalie de l'aldolase hepatique dans l'intolerance au fructose. Enzymol. Biol. Clin. 1961, 1:4-14.
45. Schapira F., Hatzfeld A., Gregori C. Studies on liver aldolases in hereditary fructose intolerance. Enzyme 1974, 18:73-83.
46. Muller-Wiefel D.E., Steinmann B., Holm-Hadulla M., Wille L., Scharer K., Gitzelmann R. Infusion-associated kidney and liver failure in undiagnosed hereditary fructose intolerance. Dtsch. Med. Wochenschr. 1983, 108:985-989.