Effects of creatine supplementation in rett syndrome: A randomized, placebo-controlled trial

Journal of Developmental and Behavioral Pediatrics

Volumn 32, Issue 6, 2011, Pages 454-460

  Freilinger, Michael ^a   Dunkler, Daniela ^a   Lanator, Ines ^a   Item, Chike Bellarmine ^a   Mühl, Adolf ^a   Fowler, Brian ^b   Bodamer, Olaf A ^a,c,d  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c Children's Hospital Salzburg   (Austria)

^d PARACELSUS MEDICAL UNIVERSITY   (Austria)

Author keywords

clinical study; global DNA methylation; Rett syndrome

Indexed keywords

CREATINE; MECP2 PROTEIN, HUMAN; METHYL CPG BINDING PROTEIN 2;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CROSSOVER PROCEDURE; DIET SUPPLEMENTATION; DNA METHYLATION; DOUBLE BLIND PROCEDURE; DRUG EFFECT; FEMALE; GENETICS; HOSPITALIZATION; HUMAN; PRESCHOOL CHILD; RANDOMIZED CONTROLLED TRIAL; RETT SYNDROME; TANDEM MASS SPECTROMETRY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CREATINE; CROSS-OVER STUDIES; DIETARY SUPPLEMENTS; DNA METHYLATION; DOUBLE-BLIND METHOD; FEMALE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; RETT SYNDROME; SEVERITY OF ILLNESS INDEX; TANDEM MASS SPECTROMETRY; YOUNG ADULT;

EID: 79959956895     PISSN: 0196206X     EISSN: None     Source Type: Journal    
DOI: 10.1097/DBP.0b013e31822177a8     Document Type: Article

References (35)

1. Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: Revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68:944-950.
2. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG binding protein 2. Nat Genet. 1999;23:185-188. (Pubitemid 29455390)
3. Nan X, Ng HH, Johnson CA, et al. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature. 1998;393:386-389. (Pubitemid 28269714)
4. Delcuve GP, Rastegar M, Davie JR. Epigenetic control. J Cell Physiol. 2009;219:243-250.
5. Bienvenu T, Chelly J. Molecular genetics of Rett syndrome: When DNA methylation goes unrecognized. Nat Rev Genet. 2006;7:415-426. (Pubitemid 43780485)
6. Chahrour M, Zoghbi HY. The story of Rett syndrome: From clinic to neurobiology. Neuron. 2007;56:422-437. (Pubitemid 350026269)
7. Nelson ED, Kavalali ET, Monteggia LM. Activity-dependent suppression of miniature neurotransmission through the regulation of DNA methylation. J Neurosci. 2008;28:395-406.
8. Ballas N, Lioy DT, Grunseich C, Mandel G. Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology. Nat Neurosci. 2009;12:311-317.
9. Van den Veyver IB. Genetic effects of methylation diets. Annu Rev Nutr. 2002;22:255-282.
10. Noh JS, Sharma RP, Veldic M, et al. DNA methyltransferase 1 regulates reelin mRNA expression in mouse primary cortical cultures. Proc Natl Acad Sci USA. 2005;102:1749-1754. (Pubitemid 40209239)
11. Cameron EE, Bachman KE, Myöhänen S, Herman JG, Baylin SB. Synergy of demethylation and histone deacetylase inhibition in the re-expression of genes silenced in cancer. Nat Genet. 1999; 21:103-107. (Pubitemid 29036293)
12. Tremolizzo L, Carboni G, Ruzicka WB, et al. An epigenetic mouse model for molecular and behavioral neuropathologies related to schizophrenia vulnerability. Proc Natl Acad Sci USA. 2002;24:17095-17100. (Pubitemid 36034104)
13. Kovacheva VP, Mellott TJ, Davison JM, et al. Gestational choline deficiency causes global and Igf2 gene DNA hypermethylation by up-regulation of Dnmt1 expression. J Biol Chem. 2007:26; 282:31777-31788. (Pubitemid 350044844)
14. Cooney CA, Dave AA, Wolff GL. Maternal methyl supplements in mice affect epigenetic variation and DNA methylation of offspring. J Nutr. 2002;132:2393S-2400S. (Pubitemid 34848114)
15. Wolff GL, Kodell RL, Moore SR, Cooney CA. Maternal epigenetics and methyl supplements affect agouti gene expression in Avy/a mice. FASEB J. 1998;12:949-957. (Pubitemid 28359576)
16. Temudo T, Rios M, Prior C, et al. Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment. Brain Dev. 2009;31:46-51.
17. Glaze DG, Percy AK, Motil KJ, et al. A study of the treatment of Rett syndrome with folate and betaine. J Child Neurol. 2009;24: 551-556.
18. Nag N, Mellott TJ, Berger-Sweeney JE. Effects of postnatal dietary choline supplementation on motor regional brain volume and growth factor expression in a mouse model of Rett syndrome. Brain Res. 2008;27:101-109.
19. Stead LM, Au KP, Jacobs RL, Brosnan ME, Brosnan JT. Methylation demand and homocysteine metabolism: Effects of dietary provision of creatine and guanidinoacetate. Am J Physiol Endocrinol Metab. 2001;281:E1095-E1100.
20. Taes YE, Delanghe JR, De Bacquer D, et al. Creatine supplementation does not decrease total plasma homocysteine in chronic hemodialysis patients. Kidney Int. 2004;66:2422-2428.
21. Gualano B, Artioli GG, Poortmans JR, Lancha Junior AH. Exploring the therapeutic role of creatine supplementation. Amino Acids. 2010;38:31-44.
22. Wyss M, Kaddurah-Daouck R. Creatine and creatinine metabolism. Physiol Rev. 2000;80:1107-1213. (Pubitemid 30452013)
23. Casey A, Constantin-Teodosiu D, Howell S, Hultman E, Greenhaff PL. Creatine ingestion favorably affects performance and muscle metabolism during maximal exercise in humans. Am J Physiol Endocrinol Metab. 1996;271:E31-E37.
24. Greenhaff PL. Creatine supplementation: Recent developments. Br J Sports Med. 1996;30:276-277. (Pubitemid 27073058)
25. Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome: Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol. 2002;6:293-297. (Pubitemid 36267302)
26. Kerr AM, Nomura Y, Armstrong D, et al. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev. 2001;23:208-211. (Pubitemid 32457802)
27. Persky AM, Brazeau GA, Hochhaus G. Pharmacokinetics of the dietary supplement creatine. Clin Pharmacokinet. 2003;42:557-574. (Pubitemid 36801873)
28. FitzGerald PM, Jankovic J, Percy AK. Rett syndrome and associated movement disorders. Mov Disord. 1990;5:195-202. (Pubitemid 20311768)
29. Freilinger M, Kalisch D, Muehl A, et al. Methylation status in females with Rett syndrome. J Child Neurol. 2007;22:635-638. (Pubitemid 46951511)
30. Loehrer FM, Haefeli WE, Angst CP, Browne G, Frick G, Fowler B. Effect of methionine loading on 5-methyltetrahydrofolate, Sadenosylmethionine and S-adenosylhomocysteine in plasma of healthy humans. Clin Sci (Lond). 1996;91:79-86. (Pubitemid 26238300)
31. Liu C, Wang Q, Guo H, et al. Plasma S-adenosylhomocysteine is a better biomarker of atherosclerosis than homocysteine in apolipoprotein E-deficient mice fed high dietary methionine. J Nutr. 2008;138:311-315. (Pubitemid 351213645)
32. Byron J, Kenward MG. Design and Analysis of Cross-Over Trials. London: Chapman & Hall, CRC; 1989.
33. Ellaway C, Williams K, Leonard H, Higgins G, Wilcken B, Christodoulou J. Rett syndrome: Randomized controlled trial of L-carnitine. J Child Neurol. 1999;14:162-167. (Pubitemid 29146696)
34. Steenge GR, Verhoef P, Greenhaff PL. The effect of creatine and resistance training on plasma homocysteine concentration in healthy volunteers. Arch Intern Med. 2001;161:1455-1456. (Pubitemid 32681168)
35. Korzun WJ. Oral creatine supplements lower plasma homocysteine concentrations in humans. Clin Lab Sci. 2004;17: 102-106.