N-acetylcysteine normalizes the urea cycle and DNA repair in cells from patients with Batten disease

Cell Biochemistry and Function

Volumn 30, Issue 8, 2012, Pages 677-682

  Kim, June Bum ^a   Lim, Nary ^b   Kim, Sung Jo ^b   Heo, Tae Hwe ^c,d  

^a Seoul Children's Hospital   (South Korea)

^b Hoseo University   (South Korea)

^c The Catholic University of Korea   (South Korea)

^d University of Korea ^*  (South Korea)

Author keywords

Batten disease; DNA repair; N acetylcysteine; Oxidative stress; Urea cycle

Indexed keywords

ACETYLCYSTEINE; CARBAMOYL PHOSPHATE SYNTHASE; DNA; DNA DIRECTED DNA POLYMERASE BETA; DNA GLYCOSYLTRANSFERASE; MESSENGER RNA; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; UREA;

ARTICLE; CONTROLLED STUDY; DNA REPAIR; FAR WESTERN BLOTTING; HUMAN; HUMAN CELL; NEURONAL CEROID LIPOFUSCINOSIS; PATHOLOGY; PRIORITY JOURNAL; PROTEIN EXPRESSION; UREA CYCLE;

ACETYLCYSTEINE; BLOTTING, WESTERN; CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA); CELL LINE; DNA GLYCOSYLASES; DNA POLYMERASE BETA; DNA REPAIR; FREE RADICAL SCAVENGERS; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; NEURONAL CEROID-LIPOFUSCINOSES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; UP-REGULATION; UREA;

EID: 84870654471     PISSN: 02636484     EISSN: 10990844     Source Type: Journal    
DOI: 10.1002/cbf.2849     Document Type: Article

References (44)

1. Phillips SN, Benedict JW, Weimer JM, Pearce DA. CLN3, the protein associated with batten disease: structure, function and localization. J Neurosci Res 2005; 79(5): 573-583.
2. Wei H, Kim SJ, Zhang Z, Tsai PC, Wisniewski KE, Mukherjee AB. ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones. Hum Mol Genet 2008; 17(4): 469-477.
3. Kim SJ, Zhang Z, Sarkar C, et al. Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice. J Clin Invest 2008; 118(9): 3075-3086.
4. Seehafer SS, Pearce DA. Spectral properties and mechanisms that underlie autofluorescent accumulations in Batten disease. Biochem Biophys Res Commun 2009; 382(2): 247-251.
5. Tuxworth RI, Chen H, Vivancos V, Carvajal N, Huang X, Tear G. The Batten disease gene CLN3 is required for the response to oxidative stress. Hum Mol Genet 2011; 20(10): 2037-2047.
6. Fossale E, Wolf P, Espinola JA, et al. Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. BMC Neurosci 2004; 5: 57.
7. Chattopadhyay S, Muzaffar NE, Sherman F, Pearce DA. The yeast model for batten disease: mutations in BTN1, BTN2, and HSP30 alter pH homeostasis. J Bacteriol 2000; 182(22): 6418-6423.
8. Cao Y, Espinola JA, Fossale E, et al. Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem 2006; 281(29): 20483-20493.
9. Ramirez-Montealegre D, Pearce DA. Defective lysosomal arginine transport in juvenile Batten disease. Hum Mol Genet 2005; 14(23): 3759-3773.
10. -/- mouse model of juvenile Batten disease. Neuropathol Appl Neurobiol 2009; 35(2): 189-207.
11. Osorio NS, Carvalho A, Almeida AJ, et al. Nitric oxide signaling is disrupted in the yeast model for Batten disease. Mol Biol Cell 2007; 18(7): 2755-2767.
12. Mori M, Gotoh T, Nagasaki A, Takiguchi M, Sonoki T. Regulation of the urea cycle enzyme genes in nitric oxide synthesis. J Inherit Metab Dis 1998; 21(Suppl 1): 59-71.
13. Butler SL, Dong H, Cardona D, et al. The antigen for Hep Par 1 antibody is the urea cycle enzyme carbamoyl phosphate synthetase 1. Lab Invest 2008; 88(1): 78-88.
14. Nakagawa T, Lomb DJ, Haigis MC, Guarente L. SIRT5 Deacetylates carbamoyl phosphate synthetase 1 and regulates the urea cycle. Cell 2009; 137(3): 560-570.
15. Dalkara T, Endres M, Moskowitz MA. Mechanisms of NO neurotoxicity. Prog Brain Res 1998; 118: 231-239.
16. Jaiswal M, LaRusso NF, Gores GJ. Nitric oxide in gastrointestinal epithelial cell carcinogenesis: linking inflammation to oncogenesis. Am J Physiol Gastrointest Liver Physiol 2001; 281(3): G626-634.
17. Bohr VA, Stevnsner T, de Souza-Pinto NC. Mitochondrial DNA repair of oxidative damage in mammalian cells. Gene 2002; 286(1): 127-134.
18. Panduri V, Liu G, Surapureddi S, et al. Role of mitochondrial hOGG1 and aconitase in oxidant-induced lung epithelial cell apoptosis. Free Radic Biol Med 2009; 47(6): 750-759.
19. Zielinska A, Davies OT, Meldrum RA, Hodges NJ. Direct visualization of repair of oxidative damage by OGG1 in the nuclei of live cells. J Biochem Mol Toxicol 2011; 25(1): 1-7.
20. Bigot K, Leemput J, Vacher M, et al. Expression of 8-oxoguanine DNA glycosylase (Ogg1) in mouse retina. Mol Vis 2009; 15: 1139-1152.
21. Sobol RW, Prasad R, Evenski A, et al. The lyase activity of the DNA repair protein beta-polymerase protects from DNA-damage-induced cytotoxicity. Nature 2000; 405(6788): 807-810.
22. Gary R, Kim K, Cornelius HL, Park MS, Matsumoto Y. Proliferating cell nuclear antigen facilitates excision in long-patch base excision repair. J Biol Chem 1999; 274(7): 4354-4363.
23. Reliene R, Goad ME, Schiestl RH. Developmental cell death in the liver and newborn lethality of Ku86 deficient mice suppressed by antioxidant N-acetyl-cysteine. DNA Repair (Amst) 2006; 5(11): 1392-1397.
24. Izzotti A, Balansky RM, Cartiglia C, Camoirano A, Longobardi M, De Flora S. Genomic and transcriptional alterations in mouse fetus liver after transplacental exposure to cigarette smoke. FASEB J 2003; 17(9): 1127-1129.
25. Romert L, Jenssen D. Mechanism of N-acetylcysteine (NAC) and other thiols as both positive and negative modifiers of MNNG-induced mutagenicity in V79 Chinese hamster cells. Carcinogenesis 1987; 8(10): 1531-1535.
26. Dianov GL, Prasad R, Wilson SH, Bohr VA. Role of DNA polymerase beta in the excision step of long patch mammalian base excision repair. J Biol Chem 1999; 274(20): 13741-13743.
27. Stierum RH, Dianov GL, Bohr VA. Single-nucleotide patch base excision repair of uracil in DNA by mitochondrial protein extracts. Nucleic Acids Res 1999; 27(18): 3712-3719.
28. Szczesny B, Tann AW, Longley MJ, Copeland WC, Mitra S. Long patch base excision repair in mammalian mitochondrial genomes. J Biol Chem 2008; 283(39): 26349-26356.
29. Seiler N. Is ammonia a pathogenetic factor in Alzheimer's disease? Neurochem Res 1993; 18(3): 235-245.
30. Enns GM. Neurologic damage and neurocognitive dysfunction in urea cycle disorders. Semin Pediatr Neurol 2008; 15(3): 132-139.
31. Yang JL, Weissman L, Bohr VA, Mattson MP. Mitochondrial DNA damage and repair in neurodegenerative disorders. DNA Repair (Amst) 2008; 7(7): 1110-1120.
32. Fukae J, Takanashi M, Kubo S, et al. Expression of 8-oxoguanine DNA glycosylase (OGG1) in Parkinson's disease and related neurodegenerative disorders. Acta Neuropathol 2005; 109(3): 256-262.
33. Nakabeppu Y, Tsuchimoto D, Yamaguchi H, Sakumi K. Oxidative damage in nucleic acids and Parkinson's disease. J Neurosci Res 2007; 85(5): 919-934.
34. Uttara B, Singh AV, Zamboni P, Mahajan RT. Oxidative stress and neurodegenerative diseases: a review of upstream and downstream antioxidant therapeutic options. Curr Neuropharmacol 2009; 7(1): 65-74.
35. Abd El Sattar El Batran S, El-Gengaihi SE, El Shabrawy OA. Some toxicological studies of Momordica charantia L. on albino rats in normal and alloxan diabetic rats. J Ethnopharmacol 2006; 108(2): 236-242.
36. Thenmozhi AJ, Subramanian P. Antioxidant Potential of Momordica charantia in Ammonium Chloride-induced Hyperammonemic Rats. Evid Based Complement Alternat Med 2011.
37. Arakawa M, Ito Y. N-acetylcysteine and neurodegenerative diseases: Basic and clinical pharmacology. Cerebellum 2007; 19: 1-7.
38. Bergamini S, Rota C, Canali R, et al. N-acetylcysteine inhibits in vivo nitric oxide production by inducible nitric oxide synthase. Nitric Oxide 2001; 5(4): 349-360.
39. Halliwell B. Free radicals and antioxidants - quo vadis? Trends Pharmacol Sci 2011; 32(3): 125-130.
40. Long LH, Halliwell B. Artefacts in cell culture: pyruvate as a scavenger of hydrogen peroxide generated by ascorbate or epigallocatechin gallate in cell culture media. Biochem Biophys Res Commun 2009; 388(4): 700-704.
41. Long LH, Halliwell B. Artefacts in cell culture: alpha-Ketoglutarate can scavenge hydrogen peroxide generated by ascorbate and epigallocatechin gallate in cell culture media. Biochem Biophys Res Commun 2011; 406(1): 20-24.
42. Long LH, Hoi A, Halliwell B. Instability of, and generation of hydrogen peroxide by, phenolic compounds in cell culture media. Arch Biochem Biophys 2010; 501(1): 162-169.
43. Hua Long L, Halliwell B. Oxidation and generation of hydrogen peroxide by thiol compounds in commonly used cell culture media. Biochem Biophys Res Commun 2001; 286(5): 991-994.
44. Lee YJ, Kim SJ, Heo TH. Protective effect of catechin in type I Gaucher disease cells by reducing endoplasmic reticulum stress. Biochem Biophys Res Commun 2011; 413(2): 254-258.