Kidneys of mice with hereditary tyrosinemia type I are extremely sensitive to cytotoxicity

Pediatric Research

Volumn 59, Issue 3, 2006, Pages 365-370

  Jacobs, Saskia M M ^a   Van Beurden, Denis H A ^a   Klomp, Leo W J ^a   Berger, Ruud ^a   Van Den Berg, Inge E T ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARYLACETOACETASE; HOMOGENTISIC ACID; NITISINONE; TYROSINE; 4 HYDROXYPHENYLPYRUVATE DIOXYGENASE; CYCLOHEXANONE DERIVATIVE; ENZYME INHIBITOR; HYDROLASE; NITROBENZOIC ACID DERIVATIVE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; CYTOTOXICITY; ENZYME DEFICIENCY; KIDNEY FUNCTION; KIDNEY INJURY; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE DISORDER; LIVER CELL; LIVER CELL CARCINOMA; LIVER FAILURE; LIVER FUNCTION; LIVER INJURY; LIVER TRANSPLANTATION; MOUSE; NICK END LABELING; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; RICKETS; TYROSINEMIA; ANIMAL; C57BL MOUSE; CYTOLOGY; DRUG ANTAGONISM; DRUG EFFECT; FEMALE; GENETICS; HUMAN; KIDNEY; LIVER; MALE; METABOLISM; MOUSE MUTANT; PATHOLOGY;

4-HYDROXYPHENYLPYRUVATE DIOXYGENASE; ANIMALS; CYCLOHEXANONES; ENZYME INHIBITORS; FEMALE; HOMOGENTISIC ACID; HUMANS; HYDROLASES; IN SITU NICK-END LABELING; KIDNEY; LIVER; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; NITROBENZOATES; TYROSINEMIAS;

EID: 33646110095     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.pdr.0000198810.57642.b4     Document Type: Article

References (28)

1. Kvittingen EA 1986 Hereditary tyrosinemia type I-an overview. Scand J Clin Lab Invest Suppl 184:27-34
2. Weinberg AG, Mize CE, Worthen HG 1976 The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediatr 88:434-438
3. Kvittingen EA 1995 Tyrosinaemia - treatment and outcome. J Inherit Metab Dis 18:375-379
4. van Spronsen FJ, Thomasse Y, Smit GP, Leonard JV, Clayton PT, Fidler V, Berger R, Heymans HS 1994 Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology 20:1187-1191
5. Russo PA, Mitchell GA, Tanguay RM 2001 Tyrosinemia: a review. Pediatr Dev Pathol 4:212-221
6. Shoemaker LR, Strife CF, Balistreri WF, Ryckman FC 1992 Rapid improvement in the renal tubular dysfunction associated with tyrosinemia following hepatic replacement. Pediatrics 89:251-255
7. Forget S, Patriquin HB, Dubois J, Lafortune M, Merouani A, Paradis K, Russo P 1999 The kidney in children with tyrosinemia: sonographic, CT and biochemical findings. Pediatr Radiol 29:104-108
8. Kvittingen EA, Talseth T, Halvorsen S, Jakobs C, Hovig T, Flatmark A 1991 Renal failure in adult patients with hereditary tyrosinaemia type I. J Inherit Metab Dis 14:53-62
9. Laine J, Salo MK, Krogerus L, Karkkainen J, Wahlroos O, Holmberg C 1995 The nephropathy of type I tyrosinemia after liver transplantation. Pediatr Res 37:640-645
10. Tuchman M, Freese DK, Sharp HL, Ramnaraine ML, Ascher N, Bloomer JR 1987 Contribution of extrahepatic tissues to biochemical abnormalities in hereditary tyrosinemia type I: study of three patients after liver transplantation. J Pediatr 110:399-403
11. Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B 1992 Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340:813-817
12. Grompe M 2001 The pathophysiology and treatment of hereditary tyrosinemia type 1. Semin Liver Dis 21:563-571
13. Holme E, Lindstedt S 1995 Diagnosis and management of tyrosinemia type I. Curr Opin Pediatr 7:726-732
14. Pronicka E, Rowinska E, Bentkowski Z, Zawadzki J, Holme E, Lindstedt S 1996 Treatment of two children with hereditary tyrosinaemia type I and long-standing renal disease with a 4-hydroxyphenylpyruvate dioxygenase inhibitor (NTBC). J Inherit Metab Dis 19:234-238
15. Holme E, Lindstedt S 1998 Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). J Inherit Metab Dis 21:507-517
16. van Spronsen FJ, Bijleveld CM, van Maldegem BT, Wijburg FA 2005 Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoromethylbenzoyl)-1, 3-cyclohexanedione treatment. J Pediatr Gastroenterol Nutr 40:90-93
17. Grompe M, Lindstedt S, Al Dhalimy M, Kennaway NG, Papaconstantinou J, Torres-Ramos CA, Ou CN, Finegold M 1995 Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I. Nat Genet 10:453-460
18. Luijerink MC, van Beurden EA, Malingre HE, Jacobs SM, Grompe M, Klomp LW, Berger R, van denBerg IE 2004 Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1. Kidney Int 66:990-1000
19. Vogel A, van den Berg IE, Al-Dhalimy M, Groopman J, Ou CN, Ryabinina O, Iordanov MS, Finegold M, Grompe M 2004 Chronic liver disease in murine hereditary tyrosinemia type 1 induces resistance to cell death. Hepatology 39:433-443
20. Gentz J, Jagenburg R, Zetterstroem R 1965 Tyrosinemia. J Pediatr 66:670-96:670-696
21. Jorquera R, Tanguay RM 1997 The mutagenicity of the tyrosine metabolite, fumarylacetoacetate, is enhanced by glutathione depletion. Biochem Biophys Res Commun 232:42-48
22. Jorquera R, Tanguay RM 2001 Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. Hum Mol Genet 10:1741-1752
23. Luijerink MC, Jacobs SM van Beurden EA, Koornneef LP, Klomp LW, Berger R van den Berg IE 2003 Extensive changes in liver gene expression induced by hereditary tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC). J Hepatol 39:901-909
24. Aydin C, Ince E, Koparan S, Cangul IT, Naziroglu M, Ak F 2005 Protective effects of long term dietary restriction on swimming exercise-induced oxidative stress in the liver, heart and kidney of rat. Cell Biochem Funct [Epub ahead of print]
25. Kvittingen EA, Rootwelt H, van Dam T, van Faassen H, Berger R 1992 Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein. Pediatr Res 31:43-46
26. Tanguay RM, Valet JP, Lescault A, Duband JL, Laberge C, Lettre F, Plante M 1990 Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). Am J Hum Genet 47:308-316
27. Lindblad B, Lindstedt S, Steen G 1977 On the enzymic defects in hereditary tyrosinemia. Proc Natl Acad Sci U S A 74:4641-4645
28. Kim SZ, Kupke KG, Ierardi-Curto L, Holme E, Greter J, Tanguay RM, Poudrier J, D'Astous M, Lettre F, Hahn SH, Levy HL 2000 Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. J Inherit Metab Dis 23:791-804