Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS)

Brain Research

Volumn 1253, Issue , 2009, Pages 176-183

  D'Hulst, Charlotte ^a   Heulens, Inge ^a   Brouwer, Judith R ^c   Willemsen, Rob ^c   De Geest, Natalie ^d,e   Reeve, Simon P ^d,e   De Deyn, Peter P ^b,f   Hassan, Bassem A ^d,e   Kooy, R Frank ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^e UNIVERSITY OF LEUVEN   (Belgium)

^f MIDDELHEIM HOSPITAL   (Belgium)

Author keywords

Expanded CGG repeat mouse model; Fragile X fly model; Fragile X knockout mouse; Fragile X syndrome; GABA (A) receptor; GABAergic signalling

Indexed keywords

4 AMINOBUTYRIC ACID; 4 AMINOBUTYRIC ACID A RECEPTOR; GEPHYRIN; GLUTAMATE DECARBOXYLASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN CORTEX; CEREBELLUM; CLINICAL FEATURE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DOWN REGULATION; DROSOPHILA MELANOGASTER; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; FRAGILE X SYNDROME; GABAERGIC SYSTEM; GENE EXPRESSION; GLIA CELL; KNOCKOUT MOUSE; MALE; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; UPREGULATION;

ANALYSIS OF VARIANCE; ANIMALS; CEREBELLUM; CEREBRAL CORTEX; DISEASE MODELS, ANIMAL; DROSOPHILA MELANOGASTER; DROSOPHILA PROTEINS; EVOLUTION; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GAMMA-AMINOBUTYRIC ACID; GENE EXPRESSION; MALE; MICE; MICE, KNOCKOUT; POLYMERASE CHAIN REACTION; RNA; SIGNAL TRANSDUCTION; TRINUCLEOTIDE REPEAT EXPANSION; UP-REGULATION;

ANIMALIA; MUS;

EID: 58249135425     PISSN: 00068993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.brainres.2008.11.075     Document Type: Article

References (44)

1. Asada H., Kawamura Y., Maruyama K., et al. Mice lacking the 65 kDa isoform of glutamic acid decarboxylase (GAD65) maintain normal levels of GAD67 and GABA in their brains but are susceptible to seizures. Biochem. Biophys. Res. Commun. 229 3 (1996) 891-895
2. Bakker C.E., and Oostra B.A. Understanding fragile X syndrome: insights from animal models. Cytogenet. Genome Res. 100 1-4 (2003) 111-123
3. Bakker C.E., Verheij C., Willemsen R., et al. Fmr1 knockout mice: a model to study fragile X mental retardation. Cell 78 (1994) 23-33
4. 98 repeat in the Fmr1 promoter. Hum. Mol. Genet. 10 16 (2001) 1693-1699
5. Brouwer J.R., Mientjes E.J., Bakker C.E., et al. Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation. Exp. Cell Res. 313 2 (2007) 244-253
6. Centonze D., Rossi S., Mercaldo V., et al. Abnormal striatal GABA transmission in the mouse model for the fragile X syndrome. Biol. Psychiatry 63 10 (2008) 963-973
7. Chang S., Bray S.M., Li Z., et al. Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila. Nat. Chem. Biol. 4 4 (2008) 256-263
8. Curia, G., Papouin, T., Seguela, P., et al., in press. Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome. Cereb. Cortex. (2008 September, Electronic publication ahead of print).
9. D'Hulst C., and Kooy R.F. The GABA(A) receptor: a novel target for treatment of fragile X?. Trends Neurosci. 30 8 (2007) 425-431
10. A receptor in fragile X syndrome. Brain Res. 1121 1 (2006) 238-245
11. Dictenberg J.B., Swanger S.A., Antar L.N., et al. A direct role for FMRP in activity-dependent dendritic mRNA transport links filopodial-spine morphogenesis to fragile X syndrome. Dev. Cell 14 6 (2008) 926-939
12. Dockendorff T.C., Su H.S., McBride S.M., et al. Drosophila lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest. Neuron 34 6 (2002) 973-984
13. A receptor expression in the seizure-prone fragile X mouse. Neurosci. Lett. 377 3 (2005) 141-146
14. Erlander M.G., and Tobin A.J. The structural and functional heterogeneity of glutamic acid decarboxylase: a review. Neurochem. Res. 16 3 (1991) 215-226
15. Erlander M.G., Tillakaratne N.J., Feldblum S., et al. Two genes encode distinct glutamate decarboxylases. Neuron 7 1 (1991) 91-100
16. Essrich C., Lorez M., Benson J.A., et al. Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin. Nat. Neurosci. 1 7 (1998) 563-571
17. A receptor subunit δ in the fragile X syndrome. Neurobiol. Dis. 21 (2006) 346-357
18. Garcia Arocena D., Iwahashi C.K., Won N., et al. Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum. Mol. Genet. 14 23 (2005) 3661-3671
19. Greco C.M., Hagerman R.J., Tassone F., et al. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125 Pt 8 (2002) 1760-1771
20. Hagerman R.J. Physical and behavioral phenotype. In: Hagerman R.J., and Hagerman P.J. (Eds). Fragile X Syndrome: Diagnosis, Treatment and Research. 3nd ed (2002), Johns Hopkins University Press, Baltimore, MA 3-109
21. Hagerman P.J. The fragile X prevalence paradox. J. Med. Genet. 45 8 (2008) 498-499
22. Hessl D., Rivera S., Koldewyn K., et al. Amygdala dysfunction in men with the fragile X premutation. Brain 130 Pt 2 (2007) 404-416
23. Hoglund P.J., Adzic D., Scicluna S.J., et al. The repertoire of solute carriers of family 6: identification of new human and rodent genes. Biochem. Biophys. Res. Commun. 336 1 (2005) 175-189
24. Jacquemont S., Hagerman R.J., Leehey M., et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am. J. Hum. Genet. 72 4 (2003) 869-878
25. Jacquemont S., Hagerman R.J., Hagerman P.J., et al. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol. 6 1 (2007) 45-55
26. Jin P., and Warren S.T. Understanding the molecular basis of fragile X syndrome. Hum. Mol. Genet. 9 6 (2000) R901-R908
27. Jursky F., Tamura S., Tamura A., et al. Structure, function and brain localization of neurotransmitter transporters. J. Exp. Biol. 196 (1994) 283-295
28. Kash S.F., Johnson R.S., Tecott L.H., et al. Epilepsy in mice deficient in the 65-kDa isoform of glutamic acid decarboxylase. Proc. Natl. Acad. Sci. U. S. A. 94 25 (1997) 14060-14065
29. Kooy R.F. Of mice and the fragile X syndrome. Trends Genet. 19 (2003) 148-154
30. Michel C.I., Kraft R., and Restifo L.L. Defective neuronal development in the mushroom bodies of Drosophila fragile X mental retardation 1 mutants. J. Neurosci. 24 25 (2004) 5798-5809
31. Mihalek R.M., Banerjee P.K., Korpi E.R., et al. Attenuated sensitivity to neuroactive steroids in γ-aminobutyrate type A receptor delta subunit knockout mice. Proc. Natl. Acad. Sci. U. S. A. 96 22 (1999) 12905-12910
32. Miyashiro K.Y., Beckel-Mitchener A., Purk T.P., et al. RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice. Neuron 37 3 (2003) 417-431
33. Morales J., Hiesinger P.R., Schroeder A.J., et al. Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron 34 6 (2002) 961-972
34. Namchuk M., Lindsay L., Turck C.W., et al. Phosphorylation of serine residues 3, 6, 10, and 13 distinguishes membrane anchored from soluble glutamic acid decarboxylase 65 and is restricted to glutamic acid decarboxylase 65alpha. J. Biol. Chem. 272 3 (1997) 1548-1557
35. Rousseau F., Rouillard P., Morel M.L., et al. Prevalence of carriers of premutation-size alleles of the FMRI gene-and implications for the population genetics of the fragile X syndrome. Am. J. Hum. Genet. 57 5 (1995) 1006-1018
36. Tassone F., Hagerman R.J., Taylor A.K., et al. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am. J. Med. Genet. 91 2 (2000) 144-152
37. Van Dam D., Errijgers V., Kooy R.F., et al. Cognitive decline, neuromotor and behavioural disturbances in a mouse model for Fragile-X-associated tremor/ataxia syndrome (FXTAS). Behav. Brain Res. 162 (2005) 233-239
38. Vandesompele J., De Preter K., Pattyn F., et al. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol. 3 7 (2002) 34.1-34.11
39. Verkerk A.J.M.H., Pieretti M., Sutcliffe J.S., et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65 (1991) 905-914
40. Wan L., Dockendorff T.C., Jongens T.A., et al. Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein. Mol. Cell. Biol. 20 22 (2000) 8536-8547
41. Willemsen R., Hoogeveen-Westerveld M., Reis S., et al. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum. Mol. Genet. 12 9 (2003) 949-959
42. Zalfa F., Eleuteri B., Dickson K.S., et al. A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability. Nat. Neurosci. 10 5 (2007) 578-587
43. Zhang Y.Q., and Broadie K. Fathoming fragile X in fruit flies. Trends Genet. 21 1 (2005) 37-45
44. Zupan B., and Toth M. Inactivation of the maternal fragile X gene results in sensitization of GABAB receptor function in the offspring. J. Pharmacol. Exp. Ther. 327 3 (2008) 820-826