Oncogenes on my mind: ERK and MTOR signaling in cognitive diseases

Trends in Genetics

Volumn 24, Issue 10, 2008, Pages 498-510

  Krab, Lianne C ^a,b   Goorden, Susanna M I ^a   Elgersma, Ype ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; MAMMALIAN TARGET OF RAPAMYCIN; MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHATIDYLINOSITOL 3 KINASE; PLACEBO; RAPAMYCIN; SIMVASTATIN;

AUTISM; BRAIN DISEASE; CANCER CHEMOTHERAPY; CLINICAL TRIAL; COGNITIVE DEFECT; CONGENITAL TUMOR; COSTELLO SYNDROME; COWDEN SYNDROME; GENE MUTATION; GENETIC DISORDER; HUMAN; LEOPARD SYNDROME; NEURO CARDIO FACIAL CUTANEOUS DISORDER; NEUROFIBROMATOSIS; NONHUMAN; NOONAN SYNDROME; ONCOGENE; PATHOPHYSIOLOGY; PHENOTYPE; POSTSYNAPTIC POTENTIAL; PRIORITY JOURNAL; RAT SARCOMA VIRAL ONCOGENE; REVIEW; RNA TRANSLATION; TUBEROUS SCLEROSIS;

ANIMALS; COGNITION DISORDERS; EXTRACELLULAR SIGNAL-REGULATED MAP KINASES; HUMANS; MODELS, BIOLOGICAL; NEUROTRANSMITTER AGENTS; ONCOGENES; PROTEIN BIOSYNTHESIS; PROTEIN KINASES; PROTO-ONCOGENE PROTEINS P21(RAS); SIGNAL TRANSDUCTION; SYNAPTIC TRANSMISSION;

ANIMALIA; MAMMALIA; RATTUS;

EID: 52949100204     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tig.2008.07.005     Document Type: Review

References (99)

1. Tartaglia M., et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat. Genet. 29 (2001) 465-468
2. Aoki Y., et al. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat. Genet. 37 (2005) 1038-1040
3. Niihori T., et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat. Genet. 38 (2006) 294-296
4. Schubbert S., et al. Germline KRAS mutations cause Noonan syndrome. Nat. Genet. 38 (2006) 331-336
5. Rodriguez-Viciana P., et al. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311 (2006) 1287-1290
6. Tartaglia M., et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat. Genet. 39 (2007) 75-79
7. Roberts A.E., et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat. Genet. 39 (2007) 70-74
8. Pandit B., et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat. Genet. 39 (2007) 1007-1012
9. Razzaque M.A., et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat. Genet. 39 (2007) 1013-1017
10. Carta C., et al. Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am. J. Hum. Genet. 79 (2006) 129-135
11. Brems H., et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat. Genet. 39 (2007) 1120-1126
12. van der Burgt I., et al. Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. J. Pediatr. 135 (1999) 707-713
13. Krab, L.C. et al. Impact of neurofibromatosis type 1 on school performance. J. Child Neurol. (in press)
14. Hyman S.L., et al. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology 65 (2005) 1037-1044
15. Levine T.M., et al. Cognitive profile of neurofibromatosis type 1. Semin. Pediatr. Neurol. 13 (2006) 8-20
16. Tyler W.J., et al. The role of neurotrophins in neurotransmitter release. Neuroscientist 8 (2002) 524-531
17. Kushner S.A., et al. Modulation of presynaptic plasticity and learning by the H-ras/extracellular signal-regulated kinase/synapsin I signaling pathway. J. Neurosci. 25 (2005) 9721-9734
18. Olijslagers J.E., et al. Rapid changes in hippocampal CA1 pyramidal cell function via pre- as well as postsynaptic membrane mineralocorticoid receptors. Eur. J. Neurosci. 27 (2008) 2542-2550
19. Costa R.M., et al. Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature 415 (2002) 526-530
20. Farnsworth C.L., et al. Calcium activation of Ras mediated by neuronal exchange factor Ras-GRF. Nature 376 (1995) 524-527
21. Krapivinsky G., et al. The NMDA receptor is coupled to the ERK pathway by a direct interaction between NR2B and RasGRF1. Neuron 40 (2003) 775-784
22. Brambilla R., et al. A role for the Ras signalling pathway in synaptic transmission and long-term memory. Nature 390 (1997) 281-286
23. Li S., et al. Distinct roles for Ras-guanine nucleotide-releasing factor 1 (Ras-GRF1) and Ras-GRF2 in the induction of long-term potentiation and long-term depression. J. Neurosci. 26 (2006) 1721-1729
24. Chen H.J., et al. A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II. Neuron 20 (1998) 895-904
25. Gelinas J.N., et al. ERK and mTOR signaling couple beta-adrenergic receptors to translation initiation machinery to gate induction of protein synthesis-dependent long-term potentiation. J. Biol. Chem. 282 (2007) 27527-27535
26. Thomas G.M., and Huganir R.L. MAPK cascade signalling and synaptic plasticity. Nat. Rev. Neurosci. 5 (2004) 173-183
27. Waltereit R., and Weller M. Signaling from cAMP/PKA to MAPK and synaptic plasticity. Mol. Neurobiol. 27 (2003) 99-106
28. Zhu J.J., et al. Ras and Rap control AMPA receptor trafficking during synaptic plasticity. Cell 110 (2002) 443-455
29. Kim J.H., et al. The role of synaptic GTPase-activating protein in neuronal development and synaptic plasticity. J. Neurosci. 23 (2003) 1119-1124
30. Ying S.W., et al. Brain-derived neurotrophic factor induces long-term potentiation in intact adult hippocampus: requirement for ERK activation coupled to CREB and upregulation of Arc synthesis. J. Neurosci. 22 (2002) 1532-1540
31. Kelleher III R.J., et al. Translational regulatory mechanisms in persistent forms of synaptic plasticity. Neuron 44 (2004) 59-73
32. Prather P., and de Vries P.J. Behavioral and cognitive aspects of tuberous sclerosis complex. J. Child Neurol. 19 (2004) 666-674
33. Messina M.P., et al. Tuberous sclerosis preclinical studies: timing of treatment, combination of a rapamycin analog (CCI-779) and interferon-gamma, and comparison of rapamycin to CCI-779. BMC Pharmacol. 7 (2007) 14
34. Habib S.L., et al. Genetic polymorphisms in OGG1 and their association with angiomyolipoma, a benign kidney tumor in patients with tuberous sclerosis. Cancer Biol. Ther. 7 (2008) 23-27
35. Tohda C., et al. Learning deficits and agenesis of synapses and myelinated axons in phosphoinositide-3 kinase-deficient mice. Neurosignals 15 (2007) 293-306
36. Kwon C.H., et al. Pten regulates neuronal arborization and social interaction in mice. Neuron 50 (2006) 377-388
37. Fraser M.M., et al. Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities. Neuroscience 151 (2008) 476-488
38. Goorden S.M., et al. Cognitive deficits in Tsc1+/- mice in the absence of cerebral lesions and seizures. Ann. Neurol. 62 (2007) 648-655
39. Ehninger D., et al. Reversal of learning deficits in a Tsc2(+/-) mouse model of tuberous sclerosis. Nat. Med. 14 (2008) 843-848
40. Bekinschtein P., et al. mTOR signaling in the hippocampus is necessary for memory formation. Neurobiol. Learn. Mem. 87 (2007) 303-307
41. Tang S.J., et al. A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus. Proc. Natl. Acad. Sci. U. S. A. 99 (2002) 467-472
42. Takei N., et al. Brain-derived neurotrophic factor induces mammalian target of rapamycin-dependent local activation of translation machinery and protein synthesis in neuronal dendrites. J. Neurosci. 24 (2004) 9760-9769
43. Gong R., et al. Roles of glutamate receptors and the mammalian target of rapamycin (mTOR) signaling pathway in activity-dependent dendritic protein synthesis in hippocampal neurons. J. Biol. Chem. 281 (2006) 18802-18815
44. Pfeiffer B.E., and Huber K.M. Current advances in local protein synthesis and synaptic plasticity. J. Neurosci. 26 (2006) 7147-7150
45. Raab-Graham K.F., et al. Activity- and mTOR-dependent suppression of Kv1.1 channel mRNA translation in dendrites. Science 314 (2006) 144-148
46. Man H.Y., et al. Activation of PI3-kinase is required for AMPA receptor insertion during LTP of mEPSCs in cultured hippocampal neurons. Neuron 38 (2003) 611-624
47. Williams P.G., and Hersh J.H. Brief report: the association of neurofibromatosis type 1 and autism. J. Autism Dev. Disord. 28 (1998) 567-571
48. Zafeiriou D.I., et al. Childhood autism and associated comorbidities. Brain Dev. 29 (2007) 257-272
49. Ferner R.E., et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J. Med. Genet. 44 (2007) 81-88
50. Li W., et al. The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr. Biol. 15 (2005) 1961-1967
51. Zeng L.H., et al. Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. Ann. Neurol. 63 (2008) 444-453
52. Denayer E., and Legius E. What's new in the neuro-cardio-facial-cutaneous syndromes?. Eur. J. Pediatr. 166 (2007) 1091-1098
53. Konstantinopoulos P.A., et al. Post-translational modifications and regulation of the RAS superfamily of GTPases as anticancer targets. Nat. Rev. Drug Discov. 6 (2007) 541-555
54. Vose, L.R. et al. Pharmacologic rescue of behavioral deficits in Drosophila NF1 mutants. (in press)
55. Graaf M.R., et al. Effects of statins and farnesyltransferase inhibitors on the development and progression of cancer. Cancer Treat. Rev. 30 (2004) 609-641
56. Belelli D., and Lambert J.J. Neurosteroids: endogenous regulators of the GABA(A) receptor. Nat. Rev. Neurosci. 6 (2005) 565-575
57. Kohno M., and Pouyssegur J. Targeting the ERK signaling pathway in cancer therapy. Ann. Med. 38 (2006) 200-211
58. Franz D.N., et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann. Neurol. 59 (2006) 490-498
59. Bissler J.J., et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N. Engl. J. Med. 358 (2008) 140-151
60. Cloughesy T.F., et al. Antitumor activity of rapamycin in a Phase I trial for patients with recurrent PTEN-deficient glioblastoma. PLoS Med. 5 (2008) e8
61. Buerger C., et al. Localization of Rheb to the endomembrane is critical for its signaling function. Biochem. Biophys. Res. Commun. 344 (2006) 869-880
62. Zenker M., et al. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J. Med. Genet. 44 (2007) 131-135
63. Nava C., et al. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J. Med. Genet. 44 (2007) 763-771
64. Krab L.C., et al. Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial. J. Am. Med. Assoc. 300 (2008) 287-294
65. Ahles T.A., and Saykin A.J. Candidate mechanisms for chemotherapy-induced cognitive changes. Nat. Rev. Cancer 7 (2007) 192-201
66. Vardy J., et al. Cancer and cancer-therapy related cognitive dysfunction: an international perspective from the Venice cognitive workshop. Ann. Oncol. 19 (2008) 623-629
67. Jenkins V., et al. A 3-year prospective study of the effects of adjuvant treatments on cognition in women with early stage breast cancer. Br. J. Cancer 94 (2006) 828-834
68. Atkins C.M., et al. The MAPK cascade is required for mammalian associative learning. Nat. Neurosci. 1 (1998) 602-609
69. Lee D.A., et al. Psychological profile of children with Noonan syndrome. Dev. Med. Child Neurol. 47 (2005) 35-38
70. Shaw A.C., et al. The natural history of Noonan syndrome: a long-term follow-up study. Arch. Dis. Child. 92 (2007) 128-132
71. Edouard T., et al. How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms?. Cell. Mol. Life Sci. 64 (2007) 1585-1590
72. Kerr B., et al. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J. Med. Genet. 43 (2006) 401-405
73. Gripp K.W., et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am. J. Med. Genet. A. 140 (2006) 1-7
74. Estep A.L., et al. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am. J. Med. Genet. A. 140 (2006) 8-16
75. Axelrad M.E., et al. Longitudinal assessment of cognitive characteristics in Costello syndrome. Am. J. Med. Genet. A. 143 (2007) 3185-3193
76. Delrue M.A., et al. Costello syndrome and neurological abnormalities. Am. J. Med. Genet. A. 123 (2003) 301-305
77. Narumi Y., et al. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am. J. Med. Genet. A. 143 (2007) 799-807
78. Yoon G., et al. Neurological complications of cardio-facio-cutaneous syndrome. Dev. Med. Child Neurol. 49 (2007) 894-899
79. Armour C.M., and Allanson J.E. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations. J. Med. Genet. 45 (2008) 249-254
80. Sancak O., et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Eur. J. Hum. Genet. 13 (2005) 731-741
81. Luat A.F., et al. Neuroimaging in tuberous sclerosis complex. Curr. Opin. Neurol. 20 (2007) 142-150
82. Lachlan K.L., et al. Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. J. Med. Genet. 44 (2007) 579-585
83. Eng C. PTEN: one gene, many syndromes. Hum. Mutat. 22 (2003) 183-198
84. Hendriks Y.M., et al. Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. Fam. Cancer 2 (2003) 79-85
85. Lok C., et al. Brain magnetic resonance imaging in patients with Cowden syndrome. Medicine (Baltimore) 84 (2005) 129-136
86. Giese K.P., et al. Hippocampus-dependent learning and memory is impaired in mice lacking the Ras-guanine-nucleotide releasing factor 1 (Ras-GRF1). Neuropharmacology 41 (2001) 791-800
87. Fernandez-Medarde A., et al. Targeted disruption of Ras-Grf2 shows its dispensability for mouse growth and development. Mol. Cell. Biol. 22 (2002) 2498-2504
88. Komiyama N.H., et al. SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor. J. Neurosci. 22 (2002) 9721-9732
89. von der Brelie C., et al. Impaired synaptic plasticity in a rat model of tuberous sclerosis. Eur. J. Neurosci. 23 (2006) 686-692
90. Manabe T., et al. Regulation of long-term potentiation by H-Ras through NMDA receptor phosphorylation. J. Neurosci. 20 (2000) 2504-2511
91. Guilding C., et al. Restored plasticity in a mouse model of neurofibromatosis type 1 via inhibition of hyperactive ERK and CREB. Eur. J. Neurosci. 25 (2007) 99-105
92. Costa R.M., and Silva A.J. Mouse models of neurofibromatosis type I: bridging the GAP. Trends Mol. Med. 9 (2003) 19-23
93. Chen A.P., et al. Forebrain-specific knockout of B-raf kinase leads to deficits in hippocampal long-term potentiation, learning, and memory. J. Neurosci. Res. 83 (2006) 28-38
94. Shalin S.C., et al. Neuronal MEK is important for normal fear conditioning in mice. J. Neurosci. Res. 75 (2004) 760-770
95. Kelleher III R.J., et al. Translational control by MAPK signaling in long-term synaptic plasticity and memory. Cell 116 (2004) 467-479
96. Mazzucchelli C., et al. Knockout of ERK1 MAP kinase enhances synaptic plasticity in the striatum and facilitates striatal-mediated learning and memory. Neuron 34 (2002) 807-820
97. Selcher J.C., et al. Mice lacking the ERK1 isoform of MAP kinase are unimpaired in emotional learning. Learn. Mem. 8 (2001) 11-19
98. Satoh Y., et al. Extracellular signal-regulated kinase 2 (ERK2) knockdown mice show deficits in long-term memory; ERK2 has a specific function in learning and memory. J. Neurosci. 27 (2007) 10765-10776
99. Waltereit R., et al. Enhanced episodic-like memory and kindling epilepsy in a rat model of tuberous sclerosis. J. Neurochem. 96 (2006) 407-413