Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model

PLoS ONE

Volumn 2, Issue 1, 2007, Pages

  Viola, Angèle ^a   Saywell, Véronique ^b,c   Villard, Laurent ^b,c   Cozzone, Patrick J ^a   Lutz, Norbert W ^a  

^a CNRS   (France)

^b INSERM   (France)

^c AIX MARSEILLE UNIVERSITY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARDIOLIPIN; CHOLINE; INOSITOL; METHYL CPG BINDING PROTEIN 2; THROMBOCYTE ACTIVATING FACTOR; AGENTS INTERACTING WITH TRANSMITTER, HORMONE OR DRUG RECEPTORS; PHOSPHOLIPID;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ASTROCYTE; BRAIN GROWTH; BRAIN SIZE; CELL FUNCTION; CONTROLLED STUDY; EXOCYTOSIS; FEMALE; GENE DELETION; GENE TARGETING; GENOTYPE; MALE; METABOLOMICS; MOLECULAR DYNAMICS; MOUSE; NEUROTRANSMISSION; NONHUMAN; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OSMOREGULATION; PHENOTYPE; RETT SYNDROME; ANIMAL; BRAIN; BRAIN LEVEL; C57BL MOUSE; CHEMISTRY; ELECTROLYTE BALANCE; GENETICS; GROWTH, DEVELOPMENT AND AGING; HUMAN; INFANT; METABOLISM; PATHOPHYSIOLOGY; PHYSIOLOGY; SYNAPTIC TRANSMISSION; TRANSGENIC MOUSE;

ANIMALIA; MUS;

ANIMALS; BRAIN; BRAIN CHEMISTRY; CARDIOLIPINS; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; METHYL-CPG-BINDING PROTEIN 2; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; NEUROTRANSMITTER AGENTS; PHENOTYPE; PHOSPHOLIPIDS; RETT SYNDROME; SYNAPTIC TRANSMISSION; WATER-ELECTROLYTE BALANCE;

EID: 35648965648     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0000157     Document Type: Article

References (55)

1. Rett A (1966) Über ein eigenartiges hirnatrophisches Syndrom bei Hyperammonämie im Kindesalter. Wien Med Wochenschr 116: 723-726.
2. Hagberg B, Aicardi J, Dias K, Ramos O (1983) A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 14: 471-479.
3. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, et al. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23: 185-188.
4. Shahbazian MD, Zoghbi HY (2002) Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet 71: 1259-1272.
5. Zoghbi HY (2005) MeCP2 dysfunction in humans and mice. J Child Neurol 20: 736-740.
6. Hagberg B, Witt-Engerstrom I (1986) Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet Suppl 1: 47-59.
7. Armstrong DD (2001) Rett syndrome neuropathology review 2000. Brain Dev 23 Suppl 1: S72-76.
8. Reiss AL, Faruque F, Naidu S, Abrams M, Beaty T, et al. (1993) Neuroanatomy of Rett syndrome: a volumetric imaging study. Ann Neurol 34: 227-234.
9. Subramaniam B, Naidu S, Reiss AL (1997) Neuroanatomy in Rett syndrome: cerebral cortex and posterior fossa. Neurology 48: 399-407.
10. Hagberg B, Hanefeld F, Percy A, Skjeldal O (2002) 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 6: 293-297.
11. Hagberg G, Stenbom Y, Witt Engerstrom I (2000) Head growth in Rett syndrome. Acta Paediatr 89: 198-202.
12. Gotoh H, Suzuki I, Maruki K, Mitomo M, Hirasawa K, et al. (2001) Magnetic resonance imaging and clinical findings examined in adulthood-studies on three adults with Rett syndrome. Brain Dev 23 Suppl 1: S118-121.
13. Dani VS, Chang Q, Maffei A, Turrigiano GG, Jaenisch R, et al. (2005) Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A 102: 12560-12565.
14. Guy J, Hendrich B, Holmes M, Martin JE, Bird A (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27: 322-326.
15. Horike S, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T (2005) Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet 37: 31-40.
16. Nuber UA, Kriaucionis S, Roloff TC, Guy J, Selfridge J, et al. (2005) Upregulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome. Hum Mol Genet 14: 2247-2256.
17. Nelson ED, Kavalali ET, Monteggia LM (2006) MeCP2-dependent transcriptional repression regulates excitatory neurotransmission. Curr Biol 16: 710-716.
18. Viemari JC, Roux JC, Tryba AK, Saywell V, Burnet H, et al. (2005) Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. J Neurosci 25: 11521-11530.
19. Nagai K, Miyake K, Kubota T (2005) A transcriptional repressor MeCP2 causing Rett syndrome is expressed in embryonic non-neuronal cells and controls their growth. Brain Res Dev Brain Res 157: 103-106.
20. Saywell V, Viola A, Confort-Gouny S, Le Fur Y, Villard L, et al. (2006) Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism. Biochem Biophys Res Commun 340: 776-783.
21. Gokcay A, Kitis O, Ekmekci O, Karasoy H, Sener RN (2002) Proton MR spectroscopy in Rett syndrome. Comput Med Imaging Graph 26: 271-275.
22. Naidu S, Kaufmann WE, Abrams MT, Pearlson GD, Lanham DC, et al. (2001) Neuroimaging studies in Rett syndrome. Brain Dev 23 Suppl 1: S62-71.
23. Pan JW, Lane JB, Hetherington H, Percy AK (1999) Rett syndrome: 1H spectroscopic imaging at 4.1 Tesla. J Child Neurol 14: 524-528.
24. Ham AL, Kumar A, Deeter R, Schanen NC (2005) Does genotype predict phenotype in Rett syndrome? J Child Neurol 20: 768-778.
25. Lutz NW (2005) From metabolic to metabolomic NMR spectroscopy of apoptotic cells. Metabolomics 1: 251-268.
26. Purves D, Augustine GJ, Fitzpatrick D, Hall WC, Lamantia AS, et al. (2001) Neuroscience. 2nd ed. ed: Sinauer Associates.
27. Viola A, Chabrol B, Nicoli F, Confort-Gouny S, Viout P, et al. (2002) Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia. Pediatr Res 52: 292-300.
28. Baslow MH (2002) Evidence supporting a role for N-acetyl-L-aspartate as a molecular water pump in myelinated neurons in the central nervous system. An analytical review. Neurochem Int 40: 295-300.
29. Macala LJ, Yohe HC (1995) In situ accessibility of murine macrophage gangliosides. Glycobiology 5: 67-75.
30. Wu G, Lu ZH, Wang J, Wang Y, Xie X, et al. (2005) Enhanced susceptibility to kainate-induced seizures, neuronal apoptosis, and death in mice lacking gangliotetraose gangliosides: protection with LIGA 20, a membrane-permeant analog of GM1. J Neurosci 25: 11014-11022.
31. Lekman AY, Hagberg BA, Svennerholm LT (1991) Membrane cerebral lipids in Rett syndrome. Pediatr Neurol 7: 186-190.
32. Lekman AY, Hagberg BA, Svennerholm LT (1999) Cerebrospinal fluid gangliosides in patients with Rett syndrome and infantile neuronal ceroid lipofuscinosis. Eur J Paediatr Neurol 3: 119-123.
33. Papadimitriou JM, Hockey A, Tan N, Masters CL (1988) Rett syndrome: abnormal membrane-bound lamellated inclusions in neurons and oligodendroglia. Am J Med Genetics 29: 365-368.
34. Baburina I, Jackowski S (1999) Cellular responses to excess phospholipid. J Biol Chem 274: 9400-9408.
35. Zhang XH, Zhao C, Seleznev K, Song K, Manfredi JJ, et al. (2006) Disruption of G1-phase phospholipid turnover by inhibition of Ca2+-independent phospholipase A2 induces a p53-dependent cell-cycle arrest in G1 phase. J Cell Sci 119: 1005-1015.
36. Johnston MV, Hohmann C, Blue ME (1995) Neurobiology of Rett syndrome. Neuropediatrics 26: 119-122.
37. Westergaard N, Fosmark H, Schousboe A (1991) Metabolism and release of glutamate in cerebellar granule cells cocultured with astrocytes from cerebellum or cerebral cortex. J Neurochem 56: 59-66.
38. Kimelberg HK (2004) The problem of astrocyte identity. Neurochem Int 45: 191-202.
39. Bazan NG (2003) Synaptic lipid signaling: significance of polyunsaturated fatty acids and platelet-activating factor. J Lipid Res 44: 2221-2233.
40. Johnston MV, Jeon OH, Pevsner J, Blue ME, Naidu S (2001) Neurobiology of Rett syndrome: a genetic disorder of synapse development. Brain Dev 23 Suppl 1: S206-213.
41. Segovia G, Del Arco A, Mora F (1999) Role of glutamate receptors and glutamate transporters in the regulation of the glutamate-glutamine cycle in the awake rat. Neurochem Res 24: 779-783.
42. Stanimirovic DB, Ball R, Durkin JP (1997) Stimulation of glutamate uptake and Na,K-ATPase activity in rat astrocytes exposed to ischemia-like insults. Glia 19: 123-134.
43. Newsholme P, Procopio J, Lima MM, Pithon-Curi TC, Curi R (2003) Glutamine and glutamate-their central role in cell metabolism and function. Cell Biochem Funct 21: 1-9.
44. Shokati T, Zwingmann C, Leibfritz D (2005) Contribution of extracellular glutamine as an anaplerotic substrate to neuronal metabolism: a re-evaluation by multinuclear NMR spectroscopy in primary cultured neurons. Neurochem Res 30: 1269-1281.
45. Zwingmann C, Shokati T, Butterworth RF, Leibfritz D. Use of NMR spectroscopy for the study of ammonia metabolism in astrocytes and neurons: role of glutamine synthesis in astrocytes. Neurochem Res in press.
46. Patel AB, de Graaf RA, Mason GF, Rothman DL, Shulman RG, et al. (2005) The contribution of GABA to glutamate/glutamine cycling and energy metabolism in the rat cortex in vivo. Proc Natl Acad Sci U S A 102: 5588-5593.
47. Brand A, Richter-Landsberg C, Leibfritz D (1993) Multinuclear NMR studies on the energy metabolism of glial and neuronal cells. Dev Neurosci 15: 289-298.
48. Kreis R, Ernst T, Ross BD (1993) Development of the human brain: in vivo quantification of metabolite and water content with proton magnetic resonance spectroscopy. Magn Reson Med 30: 424-437.
49. Picker JD, Yang R, Ricceri L, Berger-Sweeney J (2006) An altered neonatal behavioral phenotype in Mecp2 mutant mice. Neuroreport 17: 541-544.
50. Lutz NW, Tome ME, Aiken NR, Briehl MM (2002) Changes in phosphate metabolism in thymoma cells suggest mechanisms for resistance to dexamethasone-induced apoptosis. A 31P NMR spectroscopic study of cell extracts. NMR Biomed 15: 356-366.
51. Lilliefors HW (1967) The Kolmogorov-Smirnov test for normality with mean and variance unknown. J Amer Stat Assn 62: 399-402.
52. Sokal RR, Rohlf FJ (1995) Biometry. New York: Freeman.
53. Tome ME, Lutz NW, Briehl MM (2003) Overexpression of catalase or Bcl-2 delays or prevents alterations in phospholipid metabolism during glucocorticoid-induced apoptosis in WEHI7.2 cells. Biochim Biophys Acta 1642: 149-162.
54. Lykidis A, Baburina I, Jackowski S (1999) Distribution of CTP:phosphocholine cytidylyltransferase (CCT) isoforms. Identification of a new CCTbeta splice variant. J Biol Chem 274: 26992-27001.
55. Rice SQ, Southan C, Boyd HF, Terrett JA, MacPhee CH, et al. (1998) Expression, purification and characterization of a human serine-dependent phospholipase A2 with high specificity for oxidized phospholipids and platelet activating factor. Biochem J 330 (Pt 3): 1309-1315.