A mouse model of renal tubular injury of tyrosinemia type 1: Development of de Toni Fanconi Syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice

Journal of the American Society of Nephrology

Volumn 11, Issue 2, 2000, Pages 291-300

  Sun, Mao Sen ^a   Hattori, Shinzaburo ^a   Kubo, Shuji ^a   Awata, Hisataka ^a   Matsuda, Ichiro ^a   Endo, Fumio ^a  

^a KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; FANCONI RENOTUBULAR SYNDROME; GENE MUTATION; KIDNEY INJURY; KIDNEY TUBULE; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL; TYROSINEMIA;

EID: 0033959638     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (41)

1. Mitchell GA, Lambert M, Tanguay RM: Hypertyrosinemia. In: The Metabolic and Molecular Bases of Inherited Disease, 7th Ed., edited by Scriver CR, Beaudet AL, Sly WS, Valle D, New York, McGraw-Hill, 1995, pp 1077-1106
2. Russo P, O'Regan S: Visceral pathology of hereditary tyrosinemia type I. Am J Hum Genet 47: 317-324, 1990
3. Awata H, Endo F, Tanoue A, Kitano A, Nakano Y, Matsuda I: Structure, organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I. Biochim Biophys Acta 1226: 168-172, 1994
4. Grompe M, St. Louis M, Demers SI, Al-Dhalimy M, Leclerc B, Tanguay RM: A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. N Engl J Med 331: 353-357, 1994
5. Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM: Type 1 hereditary tyrosinemia: Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. J Clin Invest 90: 1185-1192, 1992
6. Holme E, Lindstedt S: Diagnosis and management of tyrosinemia type I. Curr Opin Pediatr 7: 726-732, 1995
7. Tuchman M, Freese D, Sharp HL, Ramnaraine MLR, Ascher N, Bloomer JR: Contribution of extrahepatic tissues to biochemical abnormalities in hereditary tyrosinemia type I: Study of three patients after liver transplantation. J Pediatr 110: 399-403, 1987
8. Laine J, Salo M, Krogerus L, Karkkainen J, Wahlroos O, Holmberg C: The nephropathy of type I tyrosinemia after liver transplantation. Pediatr Res 37: 640-645, 1995
9. Trigs MJ, Gluecksohn-Waelsch S: Ultrastructural basis of biochemical effects in a series of lethal alleles in the mouse. J Cell Biol 58: 549-563, 1973
10. Grompe M, Lindstedt S, Al-Dhalimy M, Kennaway NG, Papaconstantinou J, Torres-Ramos CA, Ou CA, Finegold M: Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinemia type I. Nat Genet 10: 453-460, 1995
11. Endo F, Katoh H, Yamamoto S, Matsuda I: A murine model for type III tyrosinemia: Lack of immunologically detectable 4-hydroxyphenylpyruvic acid dioxygenase enzyme protein in a novel mouse strain with hypertyrosinemia. Am J Hum Genet 48: 704-709, 1991
12. Katoh H, Endo F, Suzuki K, Matsuda I: Hereditary hypertyrosinemia mouse. Mouse Genome 89: 572, 1991
13. Endo F, Awata H, Katoh H, Matsuda I: A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III. Genomics 25: 164-169, 1995
14. 14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway. J Biol Chem 272: 24426-24432, 1997
15. Gavrieli Y, Sherman Y, Ben-Sasson AS: Identification of programmed cell death in situ via specific labeling of nuclear DNA fragmentation. J Cell Biol 119: 493-501, 1992
16. Jakobs C, Dorland L, Wikkerink B, Kok RM, De Jong APJM, Wadman SK: Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: An accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type 1. Clin Chim Acta 171: 223-232, 1988
17. Nicholson DW, Ali A, Thornberry NA, Vaillancourt JP, Ding CK, Gallant M, Gareau Y, Griffin PR, Labelle M, Lazebnik YA, Munday NA, Raju SM, Smulson ME, Yamin TT, Yu VL, Miller DK: Identification and inhibition of the ICE/CED-3 protease necessary for mammalian apoptosis. Nature 376: 37-43, 1995
18. Enari M, Talanian RV, Wong WW, Nagata S: Sequential activation of ICE-like and CPP32-like proteases during Fas-mediated apoptosis. Nature 380: 723-726, 1996
19. Raff M: Cell suicide for beginners. Nature 396: 119-122, 1998
20. Kubo S, Sun MS, Miyahara M, Umeyama K, Urakami K, Yamamoto T, Jakobs C, Matsuda I, Endo F: Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors. Proc Natl Acad Sci USA 95: 9552-9557, 1998
21. Ruppert S, Bothart M, Bosch F, Schmid W, Fournier REK, Schutz G: Two genetically defined trans-acting loci coordinately regulate overlapping sets of liver-specific genes. Cell 61: 895-904, 1990
22. Klebig ML, Russell LB, Rinchik EM: Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus. Proc Natl Acad Sci USA 89: 1363-1367, 1992
23. Ruppert S, Kelsey G, Schedl A, Schmid E, Thies E, Schutz G: Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice. Genes Dev 6: 1430-1443, 1992
24. 14CoS albino deletion mice. EMBO J 11: 127-133, 1992
25. Grompe M, Al-Dhalimy M, Finegold M, Ou CN, Burlingame T, Kennaway NG, Soriano P: Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice. Genes Dev 7: 2298-2307, 1993
26. Kelsey G, Ruppert S, Beermann F, Grund C, Tanguay RM, Schutz G: Rescue of mice homozygous for lethal albino deletions: Implications for an animal model for the human liver disease tyrosinemia type I. Genes Dev 7: 2285-2297, 1993
27. Gluecksohn-Waelsch S: Genetic control of morphogenetic and biochemical differentiation: Lethal albino deletions in the mouse. Cell 16: 225-237, 1979
28. Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B: Treatment of hereditary tyrosinemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340: 813-817, 1992
29. Roth KS, Spencer PD, Higgins ES, Spencer RF: Effects of succinylacetone on methyl α-D-glucoside uptake by the rat renal tubule. Biochem Biophys Acta 820: 140-146, 1985
30. Wyss PA, Boynton SB, Chu J, Spencer RF, Roth KS: Physiological basis for an animal model of the renal Fanconi syndrome: Use of succinylacetone in the rat. Clin Sci 83: 81-87, 1992
31. Roth KS, Medow MS, Moess LC, Spencer PD, Schwarz SM: Renal Fanconi syndrome: Developmental basis for a new animal model with relevance to human disease. Biochem Biophys Acta 987: 38-46, 1989
32. Roth KS, Carter BE, Higgins ES: Succinylacetone effects on renal tubular phosphate metabolism: A model for experimental renal Fanconi syndrome. Proc Soc Exp Biol Med 196: 428-431, 1991
33. Haber BA, Chuang E, Lee V, Taub R: Variable gene expression within human tyrosinemia type 1 liver may reflect region-specific dysplasia. Hepatology 24: 65-71, 1996
34. Woo D: Apoptosis and loss of renal tissue in polycystic kidney disease. N Engl J Med 333: 18-25, 1995
35. Lieberthal W, Levine JS: Mechanism of apoptosis and its potential role in renal tubular epithelial cell injury. Am J Physiol 271: F477-F488, 1996
36. Buttyan R, Gobe G: Apoptosis in the mammalian kidney: Incidence, effectors, and molecular control in normal development and disease states. Adv Pharmacol 41: 369-381, 1997
37. Lieberthal W, Triaca V, Levine JS: Mechanism of death induced by cisplatin in proximal tubular epithelial cells: Apoptosis vs. necrosis. Am J Physiol 270: F700-F708, 1996
38. Bucci TJ, Howard PC, Tolleson WH, Laborde JB, Hansen DK: Renal effects of fumonisin mycotoxins in animals. Toxicol Pathol 26: 160-164, 1998
39. Foreman JW, Bowring MA, Lee J, States B, Segal S: Effects of cystine dimethylester on renal solute handling and isolated renal tubule transport in the rat: A new model of the Fanconi syndrome. Metabolism 36: 1185-1191, 1987
40. Kato S, Akasaka Y, Kawamura S: Fas antigen expression and its relationship with apoptosis in transplanted kidney. Pathol Int 47: 230-237, 1997
41. Verani RR, Brewer ED, Ince A, Gibson J, Bulger RE: Proximal tubular necrosis associated with maleic acid administration to the rat. Lab Invest 46: 79-88, 1982