Rett syndrome: The state of clinical and basic research, and future perspectives

Brain and Development

Volumn 33, Issue 8, 2011, Pages 627-631

  Matsuishi, Toyojiro ^a   Yamashita, Yushiro ^a   Takahashi, Tomoyuki ^b   Nagamitsu, Shinichiro ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KURUME UNIVERSITY   (Japan)

Author keywords

MECP2 null mutation mouse model; Methyl CpG binding protein 2; Neuromodulators; Neurotransmitters; Pathophysiology; Rett syndrome

Indexed keywords

BETA ENDORPHIN; BIOGENIC AMINE; BIOLOGICAL MARKER; CITRIC ACID; GHRELIN; LACTIC ACID; MELATONIN; METHYL CPG BINDING PROTEIN 2; NEUROPEPTIDE; NEUROTRANSMITTER; PHENETHYLAMINE; PYRUVIC ACID; SUBSTANCE P;

BRAIN CORTEX; BRAIN MALFORMATION; CEREBROSPINAL FLUID ANALYSIS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MEDICAL RESEARCH; NEAR INFRARED SPECTROSCOPY; NEUROMODULATION; PATHOPHYSIOLOGY; RETT SYNDROME; REVIEW; SPINAL CORD MALFORMATION;

ABNORMALITIES, MULTIPLE; ANIMALS; BIOLOGICAL MARKERS; ENERGY METABOLISM; GHRELIN; HUMANS; METHYL-CPG-BINDING PROTEIN 2; NEUROTRANSMITTER AGENTS; RETT SYNDROME;

EID: 79960914610     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2010.12.007     Document Type: Review

References (54)

1. Diagnostic criteria for Rett syndrome. Ann Neurol 1988, 23:425-428. The Rett Syndrome Diagnostic Criteria Work Group.
2. Kerr A.M., Nomura Y., Armstrong D., Anvret M., Belichenko P.V., Budden S., et al. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev 2001, 23:208-211.
3. Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update clinically appreciable diagnostic criteria in Rett syndrome. Comments to Rett syndrome clinical criteria consensus panel satellite to European Pediatric Neurology Society Meeting, 11 September 2001, Germany: Baden Baden, Eur J Pediatr Neurol 2002; 6: 1-5.
4. Chahrour M., Zoghbi H.Y. The story of Rett syndrome: from clinic to neurobiology. Neuron 2007, 56:422-437.
5. Amir R.E., Van den Veyver I.B., Wan M., Tran C.Q., Francke U., Zoghbi H.Y. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999, 23:185-188.
6. Bienvenu T., Chelly J. Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized. Nat Rev Genet 2006, 7:415-426.
7. Franke U. Rett syndrome and MECP2-status of knowledge 10years after the genes. Invited speaker of Segawa program. No to Hattatsu 2010, 42:S88.
8. Nomura Y., Honda K., Segawa M. Pathophysiology of Rett syndrome. Brain Dev 1987, 9:506-513.
9. Segawa M., Nomura Y. Polysomnography in the Rett syndrome. Brain Dev 1992, 14:S46-S54.
10. Zoghbi H., Milstien H., Butler I.J., Smith O.B., Kaufman S., Glaze D.G., et al. Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome. Ann Neurol 1989, 25:56-60.
11. Perry T.L., Dunn H.G., Ho H.-H., Crichton J.U. Cerebrospinal fluid values for monoamine metabolites, gamma aminobutyric acid, and other amino compounds in Rett syndrome. J Pediatr 1988, 112:234-238.
12. Samaco R.C., Mandel-Brehm C., Chao H.-T., Ward C.S., Fyffe-Maricich S.L., Ren J., et al. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. PNAS 2009, 106:21966-21971.
13. Lekman A., Witt-Engerstrom I., Gottfries J., Hagberg B., Percy A.K., Svennerholm L. Rett syndrome: biogenic amines and metabolites in postmortem brain. Pediatr Neurol 1989, 5:357-362.
14. Ide S., Itoh M., Goto Y. Defect in normal developmental increase of the brain biogenic amine concentrations in the mecp2-null mouse. Neurosci Lett 2005, 386:14-17.
15. Wenk G.L. Alteration in dopaminergic function in Rett syndrome. Neuropediatrics 1995, 26:123-125.
16. Kitt C.A., Troncoso J.C., Price D.L., Naidu S., Moser H. Pathological changes in substantia nigra and basal forebrain neurons in Rett syndrome. Ann Neurol 1990, 28:416-417.
17. Satoi M., Matsuishi T., Yamada S., Yamashita Y., Ohtaki E., Mori K., et al. Decreased cerebrospinal fluid levels of β-phenylethylamine in patients with Rett syndrome. Ann Neurol 2000, 47:801-803.
18. Zhou G., Shoji H., Yamada S., Matsuishi T. Decreased cerebrospinal fluid β-phenylethylamine in Parkinson's disease. J Neurol Neurosurg Psychiatry 1997, 63:754-758.
19. Myer E.C., Tripathi H.L., Dewey W.L. Hyperendorphinism in Rett syndrome: cause or result?. Ann Neurol 1988, 24:340-341.
20. Budden S.S., Myer E.C., Buttler I.J. Cerebrospinal fluid studies in the Rett syndrome: biogenic amines and beta endorphins. Brain Dev 1990, 12:81-84.
21. Matsuishi T., Nagamitsu S., Yamashita Y., Murakami Y., Kimura A., Sakai T., et al. Decreased cerebrospinal fluid levels of substance P in patients with Rett syndrome. Ann Neurol 1997, 42:978-981.
22. Mai J.K., Stephens P.H., Hope A., Cuello A.C. Substance P in the human brain. Neuroscience 1986, 17:709-739.
23. Hender J., Hender T., Wessberg P., Jonason J. Interaction of substance P with respiratory control system in the rat. J Pharmacol Exp Ther 1983, 228:196-201.
24. Deguchi K., Antalffy B.A., Twohill L.J., Chakraborty S., Glaze D.G., Armstrong D.D. Substance P immunoreactivity in Rett syndrome. Pediatr Neurol 2000, 22:259-266.
25. Whitty C.J., Kapatos G., Bannon M.J. Neurotrophic effects of substance P on hippocampal neurons in vitro. Neurosci Lett 1993, 164:141-144.
26. McArthur A.J., Budden S.S. Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment. Dev Med Child Neurol 1998, 40:186-192.
27. Miyamoto A., Oki J., Takahashi S., Okuno A. Serum melatonin kinetics and long-term melatonin treatment for sleep disturbance in Rett syndrome. Brain Dev 1999, 21:59-62.
28. Yamashita Y., Matsuishi T., Murakami Y., Kato H. Sleep disorder in Rett syndrome and melatonin treatment. Brain Dev 1999, 21:570.
29. Lappalainen R., Lindholm D., Riikonen R. Low levels of nerve growth factor in cerebrospinal fluid of children with Rett syndrome. J Child Neurol 1996, 11:296-300.
30. Chen W.G., Chang Q., Lin Y., Meissner A., West A.E., Griffith E.C., et al. Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science 2003, 302:885-889.
31. Martinowich K., Hattori D., Wu H., Fouse S., He F., Hu Y., et al. DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science 2003, 302:890-893.
32. Chang Q., Khare G., Dani V., Nelson S., Jaenisch R. The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron 2006, 49:341-348.
33. Larimore J.L., Chapleau C.A., Kudo S., Theibert A., Percy A.K., Pozzo-Miller L. Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations. Neurobiol Dis 2009, 34:199-211.
34. Itoh M., Ide S., Takashima S., Kudo S., Nomura Y., Segawa M., et al. Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains. J Neuropathol Exp Neurol 2007, 66:117-123.
35. Tropea D., Giacometti E., Wilson N.R., Beard C., McCurry C., Fu D.D., et al. Partial reversal of Rett syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci USA 2009, 106:2029-2034.
36. Blue M.E., Naidu S., Johnston M.V. Development of amino acid receptors in frontal cortex from girls with Rett syndrome. Ann Neurol 1999, 45:541-545.
37. Hamberger A., Gillberg C., Palm A., Hagberg B. Elevated CSF glutamate in Rett syndrome. Neuropediatrics 1992, 23:212-213.
38. Yamashita Y., Matsuishi T., Ishibashi M., Kimura A., Onishi Y., Yonekura Y., et al. Decrease in benzodiazepine receptor binding in the brain of adult Rett syndrome. J Neurol Sci 1998, 154:146-150.
39. Haas R.H., Rice M.A., Trauner D.A., Meritt A. Ketogenic diet in Rett syndrome. Am J Med Genet 1986, 24(Suppl 1):5225-5246.
40. Wakai S., Kameda K., Ishikawa Y.I., Miyamoto S., Nagaoka M., Okabe M., et al. Rett syndrome: findings suggesting axonopathy and mitochondrial abnormalities. Pediatr Neurol 1990, 6:164-166.
41. Matsuishi T., Urabe F., Komori H., Yamashita Y., Naito E., Kuroda Y., et al. The Rett syndrome and CSF lactic patterns. Brain Dev 1992, 14:68-70.
42. Matsuishi T., Urabe F., Percy A.K., Komori H., Yamashita Y., Schultz R.S., et al. Kato H Abnormal carbohydrate metabolism in cerebrospinal fluid in Rett syndrome. J Child Neurol 1994, 9:26-30.
43. Murakami Y, Yamashita Y, Matsuish T, Iwanaga R, Kato H. Cerebral oxygenation and hemodynamics during hyperventilation and sleep in patients with Rett syndrome. Brain Dev; 20: 574-578.
44. Armstrong D.D. Rett syndrome neuropathology review 2000. Brain Dev 2001, 23:S72-S76.
45. Saito Y., Ito M., Ozawa Y., Matsuishi T., Hamano K., Takashima S. Reduced expression of neuropeptides can be related to respiratory disturbances in Rett syndrome. Brain Dev 2001, 23:S122-S126.
46. Amir R.E., Van den Veyver I.B., Schultz R., Malicki D.M., Tran C.Q., Dahle E.J., et al. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol 2000, 47:670-679.
47. Nan X., Bird A. The biological function of the methyl-CpG binding protein MECP2 and its implication in Rett syndrome. Brain Dev 2001, 23:S32-S37.
48. Obata K., Matsuishi T., Yamashita Y., Fukuda T., Kuwajima K., Horiuchi I., et al. Mutation analysis of the Methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. J Med Genet 2000, 37:608-610.
49. Fukuda T., Yamashita Y., Nagamitsu S., Miyamoto K., Jin J.J., Ohmori I., et al. Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. Brain Dev 2005, 27:211-217.
50. Yamashita Y., Kondo I., Fukuda T., Morishima R., Kusaga A., Iwanaga R., et al. Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech. Brain Dev 2001, 23:S157-S160.
51. Matsuishi T., Yamashita Y., Kusaga A. Neurobiology and neurochemistry of Rett syndrome. Brain Dev 2001, 23:S58-S61.
52. Yoshihara F., Kojima M., Hosoda H., Nakazato M., Kangawa K. Ghrelin: a novel peptide for growth hormone release and feeding regulation. Curr Opin Nutr Metab Care 2002, 5:391-395.
53. Okabe Y, Kusaga A, Takahashi T, Mitsumasu C, Murai Y, Tanaka E, et al. Neural development of methyl-CpG-Binding protein 2-null embryonic stem cells: a system for studying Rett syndrome. Brain Res 2010 in press.
54. Guy J., Gan J., Selfridge J., Cobb S., Bird A. Reversal of neurological defects in a mouse model of Rett syndrome. Science 2007, 315:1143-1147.