Novel etiological and therapeutic strategies for neurodiseases: Epigenetic understanding of gene-environment interactions

Journal of Pharmacological Sciences

Volumn 113, Issue 1, 2010, Pages 3-8

  Kubota, Takeo ^a   Miyake, Kunio ^a   Hirasawa, Takae ^a   Nagai, Kaoru ^a   Koide, Tsuyoshi ^b  

^a UNIVERSITY OF YAMANASHI   (Japan)

^b NATIONAL INSTITUTE OF GENETICS   (Japan)

Author keywords

Brain; DNA methylation; Environment; Epigenetics; Neurodevelopmental disorder; Neurodisease

Indexed keywords

CYANOCOBALAMIN; DNA; FOLIC ACID; HISTONE; PYRIDOXINE; S ADENOSYLMETHIONINE;

BRAIN DEVELOPMENT; DNA METHYLATION; DNA MODIFICATION; DNA SEQUENCE; ENVIRONMENTAL FACTOR; EPIGENETICS; GENE CONTROL; GENE EXPRESSION REGULATION; GENE INTERACTION; GENE MUTATION; HEREDITY; HUMAN; MATERNAL CARE; MENTAL DISEASE; MENTAL STRESS; NERVE STIMULATION; NEUROLOGIC DISEASE; NONHUMAN; NUTRITION; PROMOTER REGION; REVIEW;

EID: 77953482809     PISSN: 13478613     EISSN: 13478648     Source Type: Journal    
DOI: 10.1254/jphs.09R20FM     Document Type: Review

References (66)

1. [Basic investigation report for handicapped children report by Ministry of Health, Welfare, and Labor, Japan.] 2005. (in Japanese)
2. Yeargin-Allsopp M, Rice C, Karapurkar T, Doernberg N, Boyle C, Murphy C. Prevalence of autism in a US metropolitan area. JAMA. 2003;289:49-55.
3. Holden C. Autism now. Science. 2009;323:565.
4. Fombonne E. Epidemiology of pervasive developmental disorders. Pediatr Res. 2009;65:591-598.
5. Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science. 2003;302:826-830.
6. Persico AM, Bourgeron T. Searching for ways out of the autism maze: genetic, epigenetic and environmental clues. Trends Neurosci. 2006;29:349-358.
7. Inoue K, Kanai M, Tanabe Y, Kubota T, Kashork CD, Wakui K, et al. Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease. Prenat Diagn. 2001;21:1133-1136.
8. Online Mendelian Inheritance in Man (OMIM): #118220 http://www.ncbi.nlm.nih.gov/entrez/
9. Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature. 199;364:717-721.
10. Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, et al. Increased LIS1 expression affects human and mouse brain development. Nat Genet. 2009;41:168-177.
11. Qiu J. Epigenetics: unfinished symphony. Nature. 2006;441:143-145.
12. Guy J, Herndrich B, Hormes M Martinc JE, Bird A. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet. 2001;27:322-326.
13. Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH. Methylation-specific PCR symplifies imprinting analysis. Nat Genet. 1997;16:16-17.
14. Kubota T, Nonoyama S, Tonoki H, Masuno M, Imaizumi K, Kojima M, et al. A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum Genet. 1999;104:49-55.
15. Kubota T, Wakui K, Nakamura T, Ohashi H, Watanabe Y, Yoshino M, et al. Proportion of the cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females. Cytogenet Genome Res. 2002;99:276-284.
16. Okano M, Bell DW, Haber DA, Li E. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell. 1999;99:247-257.
17. Shirohzu H, Kubota T, Kumazawa A, Sado T, Chijiwa T, Inagaki K, et al. Three novel DNMT3B mutations in Japanese patients with ICF syndrome. Am J Med Genet. 2002;112:31-37.
18. Kubota T, Furuumi H, Kamoda T, Iwasaki N, Tobita N, Fujiwara N, et al. ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation. Am J Med Genet A. 2004;129:290-293.
19. 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.
20. Chunshu Y, Endoh K, Soutome M, Kawamura R, Kubota T. A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1. Clin Genet. 2006;70:530-531.
21. Nimura K, Ura K, Shiratori H, Ikawa M, Okabe M, Schwartz EJ, et al. A histone H3 lysine 36 trimethyltrasferase links Nkx2-5 to Wolf-Hirschhorn syndrome. Nature. 2009;460:287-291.
22. Xue F, Tian XC, Du F, Kubota C, Taneja M, Dinnyes A, et al. Aberrant patterns of X chromosome inactivation in bovine clones. Nat Genet. 2002;31:216-220.
23. Nolen LD, Gao S, Han Z, Mann MR, Gie Chung Y, Otte AP, et al. X chromosome reactivation and regulation in cloned embryos. Dev Biol. 2005;279:525-540.
24. Chen WG, Chang Q, Lin Y, Meissner A, West AE, Griffith EC, et al. Derepression of BDNF transcription involves calciumdependent phosphorylation of MeCP2. Science. 2003;302:885-889.
25. Horike S, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T. Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet. 2005;37:31-40.
26. Itoh M, Ide S, Takashima S, Kudo S, Nomura Y, Segawa M, et al. Methyl CpG-binding protein 2, whose mutation 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.
27. Jiang YH, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, et al. A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet A. 2004;131:1-10.
28. Beaudet AL. Autism: highly heritable but not inherited. Nat Med. 2007;13:534-536.
29. Beaudet AL. Allan Award lecture: Rare patients leading to epigenetics and back to genetics. Am J Hum Genet. 2008;82:1034-1038.
30. Burdge GC, Lillycrop KA, Phillips ES, Slater-Jefferies JL, Jackson AA, Hanson MA. Folic acid supplementation during the juvenile-pubertal period in rats modifies the phenotype and epigenotype induced by prenatal nutrition. J Nutr. 2009;139:1054-1060.
31. Jessberger S, Nakashima K, Clemenson GD Jr, Mejia E, Mathews E, Ure K, et al. Epigenetic modulation of seizure-induced neurogenesis and cognitive decline. J Neurosci. 2007;27:5967-5975.
32. Weaver IC, Cervoni N, Champagne FA, D'Alessio AC, Sharma S, Seckl JR, et al. Epigenetic programming by maternal behavior. Nat Neurosci. 2004;7:847-854.
33. Tsankova NM, Berton O, Renthal W, Kumar A, Neve RL, Nestler EJ. Sustained hippocampal chromatin regulation in a mouse model of depression and antidepressant action. Nat Neurosci. 2006;9:519-525.
34. Ma DK, Jang MH, Guo JU, Kitabatake Y, Chang ML, Pow-Anpongkul N, et al. Neuronal activity-induced Gadd45b promotes epigenetic DNA demethylation and adult neurogenesis. Science. 2009;323:1074-1077.
35. Smith MA, Makino S, Kvetnansky R, Post RM. Stress and glucocorticoids affect the expression of brain-derived neurotrophic factor and neurotrophin-3 mRNAs in the hippocampus. J Neurosci. 1995;15:1768-1777.
36. Nibuya M, Morinobu S, Duman RS. Regulation of BDNF and trkB mRNA in rat brain by chronic electroconvulsive seizure and antidepressant drug treatments. J Neurosci. 1995;15:7539-7547.
37. Kumar A, Choi KH, Renthal W, Tsankova NM, Theobald DE, Truong HT, et al. Chromatin remodeling is a key mechanism underlying cocaine-induced plasticity in striatum. Neuron. 2005;48: 303-314.
38. Pascual M, Boix J, Felipo V, Guerri C. Repeated alcohol administration during adolescence causes changes in the mesolimbic dopaminergic and glutamatergic systems and promotes alcohol intake in the adult rat. J Neurochem. 2009;108:920-931.
39. Renthal W, Nestler EJ. Epigenetic mechanisms in drug addiction. Trends Mol Med. 2008;14:341-350.
40. 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.
41. Waterland RA, Lin JR, Smith CA, Jirtle RL. Post-weaning diet affects genomic imprinting at the insulin-like growth factor 2 (Igf2) locus. Hum Mol Genet. 2006;15:705-716.
42. Rimland B, Callaway E, Dreyfus P. The effect of high doses of vitamin B6 on autistic children: a double-blind crossover study. Am J Psychiatry. 1978;135:472-475.
43. Reynolds EH, Carney MW, Toone BK. Methylation and mood. Lancet. 1984;2(8396):196-198.
44. Rimland B. Controversies in the treatment of autistic children: vitamin and drug therapy. J Child Neurol. 1988;3 Suppl:S68-S72.
45. James SJ, Cutler P, Melnyk S, Jernigan S, Janak L, Gaylor DW, et al. Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism. Am J Clin Nutr. 2004;80:1611-1617.
46. Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, et al. Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology. 2005;64:1088-1090.
47. 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.
48. Dashwood RH, Ho E. Dietary histone deacetylase inhibitors: from cells to mice to man. Semin Cancer Biol. 2007;17:363-369.
49. Kim JW, Zhang YH, Zern MA, Rossi JJ, Wu J. Short hairpin RNA causes the methylation of transforming growth factor-beta receptor II promoter and silencing of the target gene in rat hepatic stellate cells. Biochem Biophys Res Commun. 2007;359:292-297.
50. Teixeira FK, Heredia F, Sarazin A, Roudier F, Boccara M, Ciaudo C, et al. A role for RNAi in the selective correction of DNA methylation defects. Science. 2009;323:1600-1604.
51. Fraga MF, Ballestar E, Paz MF, Ropero S, Setien F, Ballestar ML, et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci U S A. 2005;102:10604-10609.
52. Cox GF, Bürger J, Lip V, Mau UA, Sperling K, Wu BL, et al. Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet. 2002;71:162-164.
53. Ørstavik KH, Eiklid K, van der Hagen CB, Spetalen S, Kierulf K, Skjeldal O, Buiting K. Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection. Am J Hum Genet. 2003;72:218-219.
54. Hatada I, Fukasawa M, Kimura M, Morita S, Yamada K, Yoshikawa T, et al. Genome-wide profiling of promoter methylation in human. Oncogene. 2006;25:3059-3064.
55. Takahashi A, Nishi A, Ishii A, Shiroishi, T, Koide T. Systematic analsysi of emotionality in sonsomic mouse strains established from C57BL/6J and wild-derived MSMS/Ms. Genes Brain Behav. 2008;7:849-858.
56. Kondo M, Gray LJ, Pelka GJ, Christodoulou J, Tam PP, Hannan AJ. Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome-Mecp2 gene dosage effects and BDNF expression. Eur J Neurosci. 2008;27:3342-3350.
57. Tropea D, Giacometti E, Wilson NR, Beard C, McCurry C, Fu DD, et al. Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci U S A. 2009;106:2029-2034.
58. Sadakata T, Washida M, Iwayama Y, Shoji S, Sato Y, Ohkura T, et al. Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients. J Clin Invest. 2007; 117:931-943.
59. Nakatani J, Tamada K, Hatanaka F, Ise S, Ohta H, Inoue K, et al. Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. Cell. 2009;137: 1235-1246.
60. Ebert AD, Yu J, Rose FF Jr, Mattis VB, Lorson CL, Thomson JA, et al. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature. 2009;457:277-280.
61. Bruder CE, Piotrowski A, Gijsbers AA, Andersson R, Erickson S, de Stahl TD, et al. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet. 2008;82:763-771.
62. Hitchins MP, Wong JJ, Suthers G, Suter CM, Martin DI, Hawkins NJ, et al. Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med. 2007;356:697-705.
63. Chong S, Whitelaw E. Epigenetic germline inheritance. Curr Opin Genet Dev. 2004:14:692-696.
64. Horsthemke B. Heritable germline epimutations in humans. Nat Genet. 2007;39:573-574.
65. Watanabe H, Fukuoka H, Sugiyama T, Nagai Y, Ogasawara K, Yoshiike N. Dietary folate intake during pregnancy and birth weight in Japan. Eur J Nutr. 2008;47:341-347.
66. Park JH, Stoffers DA, Nicholles RD, Simmons RA. Development of type 2 diabetes following intrauterine growth retardation in rats is associated with progressive epigenetic silencing of Pdx1. J Clin Invest. 2008;118:2316-2324.