Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency

Journal of Clinical Investigation

Volumn 122, Issue 8, 2012, Pages 2837-2846

  Kurosawa, Yuko ^a   DeGrauw, Ton J ^b   Lindquist, Diana M ^b   Blanco, Victor M ^a   Pyne Geithman, Gail J ^a   Daikoku, Takiko ^b   Chambers, James B ^c   Benoit, Stephen C ^c   Clark, Joseph F ^a,b  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c UNIVERSITY OF CINCINNATI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE; CYCLOCREATINE; CYCLOCREATINE PHOSPHATE; PLACEBO; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN FUNCTION; COGNITION; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; CREATINE TRANSPORTER DEFICIENCY; DRUG BRAIN LEVEL; DRUG STRUCTURE; LEARNING; MEMORY; MOTOR PERFORMANCE; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

ANIMALS; BASE SEQUENCE; BRAIN; COGNITION; COGNITION DISORDERS; CREATININE; DISEASE MODELS, ANIMAL; DNA PRIMERS; FEMALE; HUMANS; IMIDAZOLIDINES; LEARNING; MALE; MEMBRANE TRANSPORT PROTEINS; MEMORY; MENTAL RETARDATION, X-LINKED; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MODELS, NEUROLOGICAL; PHOSPHOCREATINE;

EID: 84864751285     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI59373     Document Type: Article

References (56)

1. Wyss M, Kaddurah-Daouk R. Creatine and creatinine metabolism. Physiol Rev. 2000;80(3):1107-1213. (Pubitemid 30452013)
2. Snow RJ, Murphy RM. Creatine and the creatine transporter: a review. Mol Cell Biochem. 2001;224(1-2):169-181. (Pubitemid 32962663)
3. Christie DL. Functional insights into the creatine transporter. In: Salomons GS, Wyss M, eds. Creatine and Creatine Kinase in Health and Disease. Dordrecht, The Netherlands: Springer; 2007:99-118.
4. Braissant O, Henry H, Villard AM, Speer O, Wallimann T, Bachmann C. Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1. BMC Dev Biol. 2005;5:9.
5. Braissant O, Henry H, Loup M, Eilers B, Bachmann C. Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study. Mol Brain Res. 2001;86(1-2):193-201. (Pubitemid 32124774)
6. Ohtsuki S, et al. The blood-brain barrier creatine transporter is a major pathway for supplying creatine to the brain. J Cereb Blood Flow Metab. 2002;22(11):1327-1335. (Pubitemid 35285090)
7. Tachikawa M, Fukaya M, Terasaki T, Ohtsuki S, Watanabe M. Distinct cellular expressions of creatine synthetic enzyme GAMT and creatine kinases uCK-Mi and CK-B suggest a novel neuron-glial relationship for brain energy homeostasis. Eur J Neurosci. 2004;20(1):144-160. (Pubitemid 38932135)
8. Pyne-Geithman GJ, et al. Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: a case study. Mol Cell Biochem. 2004;262(1-2):35-39. (Pubitemid 39158052)
9. DeGrauw TJ, Cecil KM, Byars AW, Salomons GS, Ball WS, Jakobs C. The clinical syndrome of creatine transporter deficiency. Mol Cell Biochem. 2003;244(1-2):45-48. (Pubitemid 36411051)
10. Póo-Argüelles P, et al. X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism. J Inherit Metab Dis. 2006;29(1):220-223.
11. Sempere A, et al. Creatine transporter deficiency in two adult patients with static encephalopathy [published online ahead of print March 25, 2009]. J Inherit Metab Dis. doi:10.1007/s10545-009-1083-2.
12. Mancini GM, et al. 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. 2005;132A(3):288-295. (Pubitemid 40076233)
13. Mercimek-Mahmutoglu S, et al. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology. 2006;67(3):480-484. (Pubitemid 44214974)
14. Bianchi MC, Tosetti M, Fornai F, Cipriani P, De Vito G, Canapicchi R. Reversible brain creatine deficiency in two sisters with normal blood creatine level. Ann Neurol. 2000;47(4):511-513. (Pubitemid 30194608)
15. Battini R, et al. Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. Mol Genet Metab. 2002;77(4):326-331. (Pubitemid 36027140)
16. Cecil KM, et al. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol. 2001;49(3):401-404. (Pubitemid 32202796)
17. Newmeyer A, Cecil KM, Schapiro M, Clark JF, Degrauw TJ. Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging. J Dev Behav Pediatr. 2005;26(4):276-282. (Pubitemid 41272187)
18. Newmeyer A, deGrauw T, Clark J, Chuck G, Salomons G. Screening of male patients with autism spectrum disorder for creatine transporter deficiency. Neuropediatrics. 2007;38(6):310-312. (Pubitemid 351737991)
19. Rosenberg EH, et al. High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet. 2004;75(1):97-105. (Pubitemid 38801905)
20. Puusepp H, et al. The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation [published online ahead of print January 10, 2009]. J Inherit Metab Dis. doi:10.1007/s10545-008-1063-y.
21. Schulze A, et al. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools or a new inborn error of metabolism. J Pediatr. 1997;131(4):626-631. (Pubitemid 28006942)
22. Ensenauer R, et al. Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle. Mol Genet Metab. 2004;82(3):208-213. (Pubitemid 38952653)
23. Stöckler-Ipsiroglu S, Salomons GS. Creatine deficiency syndromes. In: Fernandes J, Saudubray JM, van den Berghe G, eds. Inborn Metabolic Diseases. Heidelberg, Germany: Springer Verlag; 2006:211-217.
24. Bizzi A, et al. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol. 2002;52(2):227-231. (Pubitemid 34810605)
25. Arias A, et al. Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. Clin Biochem. 2007;40(16-17):1328-1331. (Pubitemid 47566420)
26. Ireland Z, Russell AP, Wallimann T, Walker DW, Snow R. Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse. BMC Dev Biol. 2009;9:39.
27. Braissant O, Béard E, Torrent C, Henry H. Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes. Neurobiol Dis. 2010;37(2):423-433.
28. Skelton MR, et al. Creatine transporter (CRT; Slc6a8) knockout mice as a model of human CRT deficiency. PLoS One. 2011;6(1):e16187.
29. McLaughlin AC, Cohn M. Specificity of creatine kinase for guanidine substrates. J Biol Chem. 1972;247(13):4382-4388.
30. Boehm EA, Radda GK, Tomlin H, Clark JF. The utilisation of creatine and its analogues by cytosolic and mitochondrial creatine kinase. Biochim Biophys Acta. 1996;1274(3):119-128. (Pubitemid 26195816)
31. Woznicki DT, Walker JB. Formation of a supplemental long time-constant reservoir of high energy phosphate by brain in vivo and in vitro and its reversible depletion by potassium depolarization. J Neurochem. 1979;33(1):75-80. (Pubitemid 9233913)
32. Hoosein NM, Martin KJ, Abdul M, Logothetis CJ, Kaddurah-Daouk R. Antiproliferative effects of cyclocreatine on human prostatic carcinoma cells. Anticancer Res. 1995;15(4):1339-1342.
33. Teicher BA, Menon K, Northey D, Liu J, Kufe DW, Kaddurah-Daouk R. Cyclocreatine in cancer chemotherapy. Cancer Chemother Pharmacol. 1995;35(5):411-416.
34. LoPresti P, Cohn M. Direct determination of creatine kinase equilibrium constants with creatine or cyclocreatine substrate. Biochim Biophys Acta. 1989;998(3):317-320. (Pubitemid 19248429)
35. Almeida LS, et al. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab. 2004;82(3):214-219. (Pubitemid 38952654)
36. Verhoeven NM, Salomons GS, Jakobs C. Laboratory diagnosis of defects of creatine biosynthesis and transport. Clin Chim Acta. 2005;361(1-2):1-9. (Pubitemid 41382605)
37. Braissant O. Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers [published online ahead of print January 18, 2012]. J Inherit Metab Dis. doi:10.1007/s10545-011-9433-2.
38. Walsh B, Tonkonogi M, Söderlund K, Hultman E, Saks V, Sahlin K. The role of phosphorylcreatine and creatine in the regulation of mitochondrial respiration in human skeletal muscle. J Physiol. 2001;537(pt 3):971-978. (Pubitemid 34026622)
39. Stojikovic SS. Ion channels, transporters, and electrical signaling. In: Conn PM, ed. Neuroscience In Medicine. 3rd ed. New York, New York, USA: Humana Press; 2008:53-89.
40. Krikorian R, Shidler MD, Dangelo K, Couch SC, Benoit SC, Clegg DJ. Dietary ketosis enhances memory in mild cognitive impairment. Neurobiol Aging. 2012;33(2):425.e19-425.e27.
41. Park HR, Park M, Choi J, Park KY, Chung HY, Lee J. A high-fat diet impairs neurogenesis: involvement of lipid peroxidation and brain-derived neurotrophic factor. Neurosci Lett. 2010;482(3):235-239.
42. Rae C, Digney AL, McEwan SR, Bates TC. Oral creatine monohydrate supplementation improves brain performance: a double-blind, placebo-controlled, cross-over trial. Proc Biol Sci. 2003;270(1529):2147-2150.
43. Watanabe A, Kato N, Kato T. Effects of creatine on mental fatigue and cerebral hemoglobin oxygenation. Neurosci Res. 2002;42(4):279-285. (Pubitemid 34414988)
44. Bürklen TS, et al. The creatine kinase/creatine connection to Alzheimer's disease: CK inactivation, APP-CK complexes, and focal creatine deposits. J Biomed Biotechnol. 2006;2006(3):35936.
45. Fons C, et al. Arginine supplementation in four patients with X-linked creatine transporter defect. J Inherit Metab Dis. 2008;31(6):724-728.
46. Chilosi A, et al. Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect. Neurocase. 2008;14(2):151-161. (Pubitemid 351974035)
47. Stadhouders AM, Jap PH, Winkler HP, Eppenberger HM, Wallimann T. Mitochondrial creatine kinase: a major constituent of pathological inclusions seen in mitochondrial myopathies. Proc Natl Acad Sci U S A. 1994;91(11):5089- 5093. (Pubitemid 24177798)
48. Rowley GL, Greenleaf AL, Kenyon GL. On the specificity of creatine kinase; New glycocyamines and glycocyamine analogs related to creatine. J Am Chemical Soc. 1971;93(12):5542-5551.
49. Annesley TM, Walker JB. Formation and utilization of novel high energy phosphate reservoirs in Ehrlich ascites tumor cells. J Biol Chem. 1978;253(22):8120-8125. (Pubitemid 9086294)
50. Woznicki DT, Walker JB. Utilization of cyclocreatine phosphate, an analogue of creatine phosphate, by mouse brain during ischemia and its sparing action on brain energy reserves. J Neurochem. 1980;34(5):1247-1253. (Pubitemid 10098063)
51. Sauer B. Inducible gene targeting in mice using the Cre/lox system. Methods. 1998;14(4):381-392.
52. Casanova E, et al. A CamKIIalpha iCre BAC allows brain-specific gene inactivation. Genesis. 2001;31(1):37-42. (Pubitemid 32927797)
53. Tachikawa M, et al. 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. 2008;107(3):768-778.
54. Conn RB Jr. Fluorometric determination of creatine. Clin Chem. 1960;6(6):537-548.
55. Griffith GR, Walkers JB. Accumulation of analog of phosphocreatine in muscle of chicks fed 1-carboxymethyl-2-iminoimidazolidine (cyclocreatine). J Biol Chem. 1976;251(7):2049-2054.
56. Taicher GZ, Tinsley FC, Reiderman A, Heiman ML. Quantitative magnetic resonance (QMR) method for bone and whole-body-composition analysis. Anal Bioanal Chem. 2010;377(6):990-1002.