Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers

Journal of Inherited Metabolic Disease

Volumn 35, Issue 4, 2012, Pages 655-664

  Braissant, Olivier ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID TRANSPORTER; CREATINE; CREATINE BENZYL ESTER; CREATINE ETHYL ESTER; CREATINYL AMINO ACID DERIVATIVE; GLYCINE AMIDINOTRANSFERASE; GUANIDINOACETATE METHYLTRANSFERASE; GUANIDINOACETIC ACID; MAGNESIUM ACETATE; NEUROPROTECTIVE AGENT; PROTEIN SLC6A8; TAURINE TRANSPORTER; UNCLASSIFIED DRUG;

AMINO ACID DEFICIENCY; AMINO ACID SYNTHESIS; AMINO ACID TRANSPORT; ASTROCYTE; BLOOD BRAIN BARRIER; BLOOD CEREBROSPINAL FLUID BARRIER; CELL MEMBRANE PERMEABILITY; CENTRAL NERVOUS SYSTEM DISEASE; CONFERENCE PAPER; DRUG MEGADOSE; GLYCINE AMIDINOTRANSFERASE DEFICIENCY; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HUMAN; LOW DRUG DOSE; NEUROPATHOLOGY; NEUROPROTECTION; NONHUMAN; OLIGODENDROGLIA; PROTEIN EXPRESSION; PROTEIN SLC6A8 DEFICIENCY;

ANIMALS; BIOLOGICAL TRANSPORT; BLOOD-BRAIN BARRIER; CEREBROSPINAL FLUID; CREATINE; GLYCINE; HUMANS;

EID: 84863883001     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9433-2     Document Type: Conference Paper

References (95)

1. Acosta ML, Kalloniatis M, Christie DL (2005) Creatine transporter localization in developing and adult retina: importance of creatine to retinal function. Am J Physiol Cell Physiol 289:C1015-C1023 (Pubitemid 41361655)
2. Adcock KH, Nedelcu J, Loenneker T, Martin E, Wallimann T, Wagner BP (2002) Neuroprotection of creatine supplementation in neonatal rats with transient cerebral hypoxia-ischemia. Dev Neurosci 24:382-388 (Pubitemid 36359369)
3. Adriano E, Garbati P, Damonte G, Salis A, Armirotti A, Balestrino M (in press) Searching for a therapy of creatine transporter deficiency: Some effects of creatine ethyl ester in brain slices in vitro. Neuroscience
4. Almeida LS, Verhoeven NM, Roos B et al. (2004) Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab 82:214-219 (Pubitemid 38952654)
5. Almeida LS, Salomons GS, Hogenboom F, Jakobs C, Schoffelmeer AN (2006) Exocytotic release of creatine in rat brain. Synapse 60:118-123 (Pubitemid 43878120)
6. Bachmann C, Braissant O, Villard AM, Boulat O, Henry H (2004) Ammonia toxicity to the brain and creatine. Mol Genet Metab 81 (Suppl 1):S52-S57 (Pubitemid 38402235)
7. Balestrino M, Lensman M, Parodi M, Perasso L, Rebaudo R, Melani R, Polenov S, Cupello A (2002) Role of creatine and phosphocreatine in neuronal protection from anoxic and ischemic damage. Amino Acids 23:221-229
8. Battini R, Leuzzi V, Carducci C et al. (2002) Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. Mol Genet Metab 77:326-331 (Pubitemid 36027140)
9. Battini R, Alessandri MG, Leuzzi V et al. (2006) Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. J Pediatr 148:828-830 (Pubitemid 43870091)
10. Béard E, Braissant O (2010) Synthesis and transport of creatine in the CNS: importance for cerebral functions. J Neurochem 115:297-313
11. Bélanger M, Asashima T, Ohtsuki S, Yamaguchi H, Ito S, Terasaki T (2007) Hyperammonemia induces transport of taurine and creatine and suppresses claudin-12 gene expression in brain capillary endothelial cells in vitro. Neurochem Int 50:95-101 (Pubitemid 44879665)
12. Bender A, Koch W, Elstner M et al. (2006) Creatine supplementation in Parkinson disease: a placebo-controlled randomized pilot trial. Neurology 67:1262-1264 (Pubitemid 44563840)
13. Bizzi A, Bugiani M, Salomons GS et al. (2002) X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol 52:227-231 (Pubitemid 34810605)
14. Bothwell JH, Styles P, Bhakoo KK (2002) Swelling-activated taurine and creatine effluxes from rat cortical astrocytes are pharmacologically distinct. J Membr Biol 185:157-164 (Pubitemid 34095246)
15. Braissant O (2010a) Ammonia toxicity to the brain: effects on creatine metabolism and transport and protective roles of creatine. Mol Genet Metab 100(Suppl 1):S53-S58
16. Braissant O (2010b) Current concepts in the pathogenesis of urea cycle disorders. Mol Gen Metab 100(Suppl 1):S3-S12
17. Braissant O, Henry H (2008) AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review. J Inher Metab Dis 31:230-239
18. Braissant O, Gotoh T, Loup M, Mori M, Bachmann C (1999) L-arginine uptake, the citrulline-NO cycle and arginase II in the rat brain: an in situ hybridization study. Mol Brain Res 70:231-241 (Pubitemid 29317637)
19. Braissant O, Gotoh T, Loup M, Mori M, Bachmann C (2001a) Differential expression of the cationic amino acid transporter 2(B) in the adult rat brain. Mol Brain Res 91:189-195 (Pubitemid 32702020)
20. Braissant O, Henry H, Loup M, Eilers B, Bachmann C (2001b) Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study. Mol Brain Res 86:193-201 (Pubitemid 32124774)
21. Braissant O, Henry H, Villard AM et al. (2002) Ammonium-induced impairment of axonal growth is prevented through glial creatine. J Neurosci 22:9810-9820 (Pubitemid 35332865)
22. Braissant O, Henry H, Villard AM, Speer O, Wallimann T, Bachmann C (2005) Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1. BMC Dev Biol 5:9
23. Braissant O, Bachmann C, Henry H (2007) Expression and function of AGAT, GAMT and CT1 in the mammalian brain. Subcell Biochem 46:67-81
24. Braissant O, Cagnon L, Monnet-Tschudi F et al. (2008) Ammonium alters creatine transport and synthesis in a 3D-culture of developing brain cells, resulting in secondary cerebral creatine deficiency. Eur J Neurosci 27:1673-1685 (Pubitemid 351473571)
25. Braissant O, Béard E, Torrent C, Henry H (2010) Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes. Neurobiol Dis 37:423-433
26. Braissant O, Henry H, Beard E, Uldry J (2011) Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Amino Acids 40:1315-1324
27. Brosnan JT, Brosnan ME (2007) Creatine: endogenous metabolite, dietary, and therapeutic supplement. Annu Rev Nutr 27:241-261 (Pubitemid 351373357)
28. Burov S, Leko M, Dorosh M, Dobrodumov A, Veselkina O (2011) Creatinyl amino acids-new hybrid compounds with neuroprotective activity. J Pept Sci 17:620-626
29. Cagnon L, Braissant O (2007) Hyperammonemia-induced toxicity for the developing central nervous system. Brain Res Rev 56:183-197 (Pubitemid 350100868)
30. Cardoso FL, Brites D, Brito MA (2010) Looking at the blood-brain barrier: molecular anatomy and possible investigation approaches. Brain Res Rev 64:328-363
31. Cecil KM, Salomons GS, Ball WS et al. (2001) Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 49:401-404 (Pubitemid 32202796)
32. Cecil KM, DeGrauw TJ, Salomons GS, Jakobs C, Egelhoff JC, Clark JF (2003) Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency. J Comput Assist Tomogr 27:44-47 (Pubitemid 36139750)
33. Chanutin A (1927) A study on the effect of creatine on growth and its distribution in the tissues of normal rats. J Biol Chem 75:549-557
34. Chilosi A, Leuzzi V, Battini R et al. (2008) Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect. Neurocase 14:151-161 (Pubitemid 351974035)
35. Davis BM, Miller RK, Brent RL, Koszalka TR (1978) Materno-fetal transport of creatine in the rat. Biol Neonate 33:43-54 (Pubitemid 8318667)
36. Dechent P, Pouwels PJ, Wilken B, Hanefeld F, Frahm J (1999) Increase of total creatine in human brain after oral supplementation of creatine- monohydrate. Am J Physiol 277:R698-R704 (Pubitemid 29458141)
37. DeGrauw TJ, Salomons GS, Cecil KM et al. (2002) Congenital creatine transporter deficiency. Neuropediatrics 33:232-238 (Pubitemid 36134196)
38. Dezortova M, Jiru F, Petrasek J, Malinova V, Zeman J, Jirsa M, Hajek M (2008) 1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency. Magn Reson Mater Phy 21:327-332
39. Dityatev A, Seidenbecher CI, Schachner M (2010) Compartmentalization from the outside: the extracellular matrix and functional microdomains in the brain. Trends Neurosci 33:503-512
40. Engelhardt B, Sorokin L (2009) The blood-brain and the blood-cerebrospinal fluid barriers: function and dysfunction. Semin Immunopathol 31:497-511
41. Ensenauer R, Thiel T, Schwab KO et al. (2004) Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle. Mol Genet Metab 82:208-213 (Pubitemid 38952653)
42. Fons C, Sempere A, Arias A et al. (2008) Arginine supplementation in four patients with X-linked creatine transporter defect. J Inherit Metab Dis 31:724-728
43. Fons C, Arias A, Sempere A et al. (2010) Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency. Mol Genet Metab 99:296-299
44. Ganesan V, Johnson A, Connelly A, Eckhardt S, Surtees RA (1997) Guanidinoacetate methyltransferase deficiency: new clinical features. Pediatr Neurol 17:155-157 (Pubitemid 27465184)
45. Giese MW, Lecher CS (2009) Non-enzymatic cyclization of creatine ethyl ester to creatinine. Biochem Biophys Res Commun 388:252-255
46. Happe HK, Murrin LC (1995) In situ hybridization analysis of CHOT1, a creatine transporter, in the rat central nervous system. J Comp Neurol 351:94-103
47. Hasselbalch SG, Knudsen GM, Jakobsen J, Hageman LP, Holm S, Paulson OB (1995) Blood-brain barrier permeability of glucose and ketone bodies during short-term starvation in humans. Am J Physiol 268:E1161-E1166
48. Hausmann ON, Fouad K, Wallimann T, Schwab ME (2002) Protective effects of oral creatine supplementation on spinal cord injury in rats. Spinal Cord 40:449-456 (Pubitemid 35001733)
49. Hersch SM, Gevorkian S, Marder K et al. (2006) Creatine in Huntington disease is safe, tolerable, bioavailable in brain and reduces serum 8OH2'dG. Neurology 66:250-252 (Pubitemid 43970166)
50. Ireland Z, Dickinson H, Snow R, Walker DW (2008) Maternal creatine: does it reach the fetus and improve survival after an acute hypoxic episode in the spiny mouse (Acomys cahirinus)? Am J Obstet Gynecol 198:431-436
51. Ireland Z, Russell AP, Wallimann T, Walker DW, Snow R (2009) Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse. BMC Dev Biol 9:39
52. Ireland Z, Castillo-Melendez M, Dickinson H, Snow R, Walker DW (2011) A maternal diet supplemented with creatine from mid-pregnancy protects the newborn spiny mouse brain from birth hypoxia. Neuroscience
53. Item CB, Stöckler-Ipsiroglu S, Stromberger C et al. (2001) Arginine: glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet 69:1127-1133 (Pubitemid 33015826)
54. Kan HE, Meeuwissen E, van Asten JJ, Veltien A, Isbrandt D, Heerschap A (2007) Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy. J Appl Physiol 102:2121-2127 (Pubitemid 47080742)
55. Klein AM, Ferrante RJ (2007) The neuroprotective role of creatine. Subcell Biochem 46:205-243
56. Lensman M, Korzhevskii DE, Mourovets VO, Kostkin VB, Izvarina N, Perasso L, Gandolfo C, Otellin VA, Polenov SA, Balestrino M (2006) Intracerebroventricular administration of creatine protects against damage by global cerebral ischemia in rat. Brain Res 1114:187-194 (Pubitemid 44414770)
57. Lunardi G, Parodi A, Perasso L et al. (2006) The creatine transporter mediates the uptake of creatine by brain tissue, but not the uptake of two creatine-derived compounds. Neuroscience 142:991-997 (Pubitemid 44636048)
58. Mak CS, Waldvogel HJ, Dodd JR et al. (2009) Immunohistochemical localisation of the creatine transporter in the rat brain. Neuroscience 163:571-585
59. Mancini GM, Catsman-Berrevoets CE et al. (2005) Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Am J Med Genet A 132:288-295 (Pubitemid 40076233)
60. Nakashima T, Tomi M, Katayama K et al. (2004) Blood-to-retina transport of creatine via creatine transporter (CRT) at the rat inner blood-retinal barrier. J Neurochem 89:1454-1461 (Pubitemid 38802667)
61. Nakashima T, Tomi M, Tachikawa M, Watanabe M, Terasaki T, Hosoya K (2005) Evidence for creatine biosynthesis in Müller glia. GLIA 52:47-52 (Pubitemid 41532136)
62. Neuwelt EA, Bauer B, Fahlke C et al. (2011) Engaging neuroscience to advance translational research in brain barrier biology. Nat Rev Neurosci 12:169-182
63. Ohtsuki S, Tachikawa M, Takanaga H et al. (2002) The blood-brain barrier creatine transporter is a major pathway for supplying creatine to the brain. J Cereb Blood Flow Metab 22:1327-1335 (Pubitemid 35285090)
64. Perasso L, Cupello A, Lunardi GL, Principato C, Gandolfo C, Balestrino M (2003) Kinetics of creatine in blood and brain after intraperitoneal injection in the rat. Brain Res 974:37-42 (Pubitemid 36549218)
65. Perasso L, Lunardi GL, Risso F et al. (2008) Protective effects of some creatine derivatives in brain tissue anoxia. Neurochem Res 33:765-775 (Pubitemid 351423140)
66. Perasso L, Adriano E, Ruggeri P, Burov SV, Gandolfo C, Balestrino M (2009) In vivo neuroprotection by a creatine-derived compound: phosphocreatine-Mg-complex acetate. Brain Res 1285:158-163
67. Pisano JJ, Abraham D, Udenfriend S (1963) Biosynthesis and disposition of g-guanidinobutyric acid in mammalian tissues. Arch Biochem Biophys 100:323-329
68. Póo-Argüelles P, Arias A, Vilaseca MA et al. (2006) X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism. J Inherit Metab Dis 29:220-223
69. Salomons GS, van Dooren SJ, Verhoeven NM et al. (2001) X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet 68:1497-1500 (Pubitemid 32510625)
70. Schloss P, Mayser W, Betz H (1994) The putative rat choline transporter CHOT1 transports creatine and is highly expressed in neural and muscle-rich tissues. Biochem Biophys Res Commun 198:637-645 (Pubitemid 24178416)
71. Schmidt A, Marescau B, Boehm EA et al. (2004) Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency. Hum Mol Genet 13:905-921 (Pubitemid 38628427)
72. Schulze A (2005) Strategies in the treatment of GAMT deficiency. In Jakobs C, Stöckler-Ipsiroglu S, eds; Verhoeven NM, Salomons GS, co-eds. Clinical and molecular aspects of defects in creatine and polyol metabolism. Heilbronn: SPS Verlagsgesellschaft, 19-33
73. Schulze A, Battini R (2007) Pre-symptomatic treatment of creatine biosynthesis defects. Subcell Biochem 46:167-181
74. Schulze A, Hess T, Wevers R et al. (1997) Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr 131:626-631 (Pubitemid 28006942)
75. Schulze A, Mayatepek E, Bachert P, Marescau B, De Deyn PP, Rating D (1998) Therapeutic trial of arginine restriction in creatine deficiency syndrome. Eur J Pediatr 157:606-607 (Pubitemid 28311494)
76. Schulze A, Bachert P, Schlemmer H et al. (2003) Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol 53:248-251 (Pubitemid 36164008)
77. Schulze A, Hoffmann GF, Bachert P et al. (2006) Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency. Neurology 67:719-721 (Pubitemid 44273633)
78. 1H MR spectroscopy of the brain in Cr transporter defect. Mol Genet Metab 86:421-422
79. Spector R (2010) Nature and consequences of mammalian brain and CSF efflux transporters: four decades of progress. J Neurochem 112:13-23
80. Stöckler S, Holzbach U, Hanefeld F et al. (1994) Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res 36:409-413 (Pubitemid 24256792)
81. Stöckler S, Hanefeld F, Frahm J (1996) Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 348:789-790 (Pubitemid 26308483)
82. Stöckler S, Schutz PW, Salomons GS (2007) Cerebral creatine deficiency syndromes: Clinical aspects, treatment and pathophysiology. Subcell Biochem 46:149-166
83. Sullivan PG, Geiger JD, Mattson MP, Scheff SW (2000) Dietary supplement creatine protects against traumatic brain injury. Ann Neurol 48:723-729
84. Tachikawa M, Hosoya K (2011) Transport characteristics of guanidino compounds at the blood-brain barrier and blood-cerebrospinal fluid barrier: relevance to neural disorders. Fluids Barriers CNS 8:13
85. Tachikawa M, Fukaya M, Terasaki T, Ohtsuki S, Watanabe M (2004) Distinct cellular expressions of creatine synthetic enzyme GAMT and creatine kinases uCK-Mi and CK-B suggest a novel neuronglial relationship for brain energy homeostasis. Eur J Neurosci 20:144-160 (Pubitemid 38932135)
86. Tachikawa M, Fujinawa J, Takahashi M et al. (2008) Expression and possible role of creatine transporter in the brain and at the blood-cerebrospinal fluid barrier as a transporting protein of guanidinoacetate, an endogenous convulsant. J Neurochem 107:768-778
87. Tachikawa M, Kasai Y, Yokoyama R et al. (2009) The blood-brain barrier transport and cerebral distribution of guanidinoacetate in rats: involvement of creatine and taurine transporters. J Neurochem
88. Valayannopoulos V, Boddaert N, Chabli A et al. (2011) Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect. J Inherit Metab Dis
89. van de Kamp JM, Pouwels PJ, Aarsen FK et al. (2011a) Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. J Inherit Metab Dis Epub ahead of print
90. van de Kamp JM, Mancini GMS, Pouwels PJW, Betsalel OT, van Dooren SJM, de Koning I, Steenweg ME, Jakobs C, van der Knaap MS, Salomons GS (2011b) Clinical features and X-inactivation in females heterozygous for creatine transporter defect. Clin Genet 79:199-299
91. Wang L, Zhang Y, Shao M, Zhang H (2007) Spatiotemporal expression of the creatine metabolism related genes agat, gamt and ct1 during zebrafish embryogenesis. Int J Dev Biol 51:247-253 (Pubitemid 46910355)
92. Wilcken B, Fagan E, Sim K, Carpenter KH, Salomons GS (2008) Creatine transporter defect: results of 6 months' treatment. J Inher Metab Dis 31(Suppl):70
93. Wolburg H, Paulus W (2010) Choroid plexus: biology and pathology. Acta Neuropathol 119:75-88
94. Wyss M, Kaddurah-Daouk R (2000) Creatine and creatinine metabolism. Physiol Rev 80:1107-1213 (Pubitemid 30452013)
95. Zhang Y, Barres BA (2010) Astrocyte heterogeneity: an underappreciated topic in neurobiology. Curr Opin Neurobiol 20:588-594