Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism

Biochemical and Biophysical Research Communications

Volumn 340, Issue 3, 2006, Pages 776-783

  Saywell, Véronique ^a,b   Viola, Angèle ^c   Confort Gouny, Sylviane ^c   Le Fur, Yann ^c   Villard, Laurent ^a,b   Cozzone, Patrick J ^c  

^a TIMONE HOSPITAL   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

^c University of Aix Marseille   (France)

Author keywords

Astrocytes; Brain imaging; Brain magnetic resonance spectroscopy; Mecp2; Mental retardation; Metabolism; Neurons; Rett syndrome

Indexed keywords

CHOLINE; GLUTAMIC ACID; GLUTAMINE; INOSITOL; METHYL CPG BINDING PROTEIN 2; N ACETYLASPARTIC ACID;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BRAIN METABOLISM; BRAIN SIZE; CEREBELLUM; COGNITION; CONTROLLED STUDY; FEMALE; GENE DELETION; IN VIVO STUDY; MALE; METABOLIC DISORDER; MORPHOMETRICS; MOTOR CORTEX; MOTOR PERFORMANCE; MOUSE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NULL ALLELE; PHENOTYPE; PRIORITY JOURNAL;

ANIMALIA;

EID: 30144434255     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2005.12.080     Document Type: Article

References (40)

1. R.E. Amir, I.B. Van den Veyver, M. Wan, C.Q. Tran, U. Francke, and H.Y. Zoghbi Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nat. Genet. 23 1999 185 188
2. A.L. Reiss, F. Faruque, S. Naidu, M. Abrams, T. Beaty, R.N. Bryan, and H. Moser Neuroanatomy of Rett syndrome: a volumetric imaging study Ann. Neurol. 34 1993 227 234
3. B. Subramaniam, S. Naidu, and A.L. Reiss Neuroanatomy in Rett syndrome: cerebral cortex and posterior fossa Neurology 48 1997 399 407
4. D.D. Armstrong Rett syndrome neuropathology review 2000 Brain Dev. 23 Suppl. 1 2001 S72 S76
5. H. Gotoh, I. Suzuki, K. Maruki, M. Mitomo, K. Hirasawa, and N. Sasaki Magnetic resonance imaging and clinical findings examined in adulthood-studies on three adults with Rett syndrome Brain Dev. 23 Suppl. 1 2001 S118 S121
6. M.L. Bauman, T.L. Kemper, and D.M. Arin Pervasive neuroanatomic abnormalities of the brain in three cases of Rett's syndrome Neurology 45 1995 1581 1586
7. P.V. Belichenko, and A. Dahlstrom Studies on the 3-dimensional architecture of dendritic spines and varicosities in human cortex by confocal laser scanning microscopy and Lucifer yellow microinjections J. Neurosci. Methods 57 1995 55 61
8. P.O. Julu, A.M. Kerr, F. Apartopoulos, S. Al-Rawas, I.W. Engerstrom, L. Engerstrom, G.A. Jamal, and S. Hansen Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder Arch. Dis. Child. 85 2001 29 37
9. W.H. Konarzewski, and S. Misso Rett syndrome and delayed recovery from anaesthesia Anaesthesia 49 1994 357
10. S.N. Khalil, E. Hanna, A. Farag, and G. Armendartz Rett syndrome: anaesthesia management Paediatr. Anaesth. 12 2002 375
11. J. Viemari, J. Roux, A. Tryba, V. Saywell, H. Burnet, F. Pena, S. Zanella, M. Bevengut, M. Barthelemy-Requin, L. Herzing, A. Moncla, J. Mancini, J. Ramirez, L. Villard, and G. Hilaire Mecp2-deficiency disrupts norepinephrine and respiratory systems in mice J. Neurosci. 25 2005 11521 11530
12. A. Horska, S. Naidu, E.H. Herskovits, P.Y. Wang, W.E. Kaufmann, and P.B. Barker Quantitative 1H MR spectroscopic imaging in early Rett syndrome Neurology 54 2000 715 722
13. F. Hanefeld, H.J. Christen, U. Holzbach, B. Kruse, J. Frahm, and W. Hanicke Cerebral proton magnetic resonance spectroscopy in Rett syndrome Neuropediatrics 26 1995 126 127
14. S. Naidu, W.E. Kaufmann, M.T. Abrams, G.D. Pearlson, D.C. Lanham, K.A. Fredericksen, P.B. Barker, A. Horska, X. Golay, S. Mori, D.F. Wong, M. Yablonski, H.W. Moser, and M.V. Johnston Neuroimaging studies in Rett syndrome Brain Dev. 23 Suppl. 1 2001 S62 S71
15. J.W. Pan, J.B. Lane, H. Hetherington, and A.K. Percy Rett syndrome: 1H spectroscopic imaging at 4.1 Tesla J. Child Neurol. 14 1999 524 528
16. J.B. Nielsen, P.B. Toft, E. Reske-Nielsen, K.E. Jensen, P. Christiansen, C. Thomsen, O. Henriksen, and H.C. Lou Cerebral magnetic resonance spectroscopy in Rett syndrome. Failure to detect mitochondrial disorder Brain Dev. 15 1993 107 112
17. R. Lappalainen, K. Liewendahl, K. Sainio, P. Nikkinen, and R.S. Riikonen Brain perfusion SPECT and EEG findings in Rett syndrome Acta Neurol. Scand. 95 1997 44 50
18. L. Burroni, A.M. Aucone, D. Volterrani, Y. Hayek, P. Bertelli, A. Vella, M. Zappella, and A. Vattimo Brain perfusion abnormalities in Rett syndrome: a qualitative and quantitative SPET study with 99Tc(m)-ECD Nucl. Med. Commun. 18 1997 527 534
19. P.M. Villemagne, S. Naidu, V.L. Villemagne, M. Yaster, H.N. Wagner, J.C. Harris, H.W. Moser, M.V. Johnston, R.F. Dannals, and D.F. Wong Brain glucose metabolism in Rett Syndrome Pediatr. Neurol. 27 2002 117 122
20. J. Guy, B. Hendrich, M. Holmes, J.E. Martin, and A. Bird A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome Nat. Genet. 27 2001 322 326
21. V.S. Dani, Q. Chang, A. Maffei, G.G. Turrigiano, R. Jaenisch, and S.B. Nelson 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. USA 102 2005 12560 12565
22. S. Horike, S. Cai, M. Miyano, J.F. Cheng, and T. Kohwi-Shigematsu Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome Nat. Genet. 37 2005 31 40
23. U.A. Nuber, S. Kriaucionis, T.C. Roloff, J. Guy, J. Selfridge, C. Steinhoff, R. Schulz, B. Lipkowitz, H.H. Ropers, M.C. Holmes, and A. Bird Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome Hum. Mol. Genet. 14 2005 2247 2256
24. M.F. Penet, A. Viola, S. Confort-Gouny, Y. Le Fur, G. Duhamel, F. Kober, D. Ibarrola, M. Izquierdo, N. Coltel, B. Gharib, G.E. Grau, and P.J. Cozzone Imaging experimental cerebral malaria in vivo: significant role of ischemic brain edema J. Neurosci. 25 2005 7352 7358
25. A. Viola, F. Nicoli, B. Denis, S. Confort-Gouny, Y. Le Fur, J.P. Ranjeva, P. Viout, and P.J. Cozzone High cerebral scyllo-inositol: a new marker of brain metabolism disturbances induced by chronic alcoholism Magma 17 2004 47 61
26. P.V. Belichenko, B. Hagberg, and A. Dahlstrom Morphological study of neocortical areas in Rett syndrome Acta Neuropathol. (Berl.) 93 1997 50 61
27. M.E. Cornford, M. Philippart, B. Jacobs, A.B. Scheibel, and H.V. Vinters Neuropathology of Rett syndrome: case report with neuronal and mitochondrial abnormalities in the brain J. Child Neurol. 9 1994 424 431
28. K. Jellinger, and F. Seitelberger Neuropathology of Rett syndrome Am. J. Med. Genet. Suppl. 1 1986 259 288
29. D. Riva, and C. Giorgi The contribution of the cerebellum to mental and social functions in developmental age Fiziol. Cheloveka 26 2000 27 31
30. L. Levisohn, A. Cronin-Golomb, and J.D. Schmahmann Neuropsychological consequences of cerebellar tumour resection in children: cerebellar cognitive affective syndrome in a paediatric population Brain 123 Pt. 5 2000 1041 1050
31. J.W. Murakami, E. Courchesne, R.H. Haas, G.A. Press, and R. Yeung-Courchesne Cerebellar and cerebral abnormalities in Rett syndrome: a quantitative MR analysis AJR Am. J. Roentgenol. 159 1992 177 183
32. P.J. Pouwels, and J. Frahm Differential distribution of NAA and NAAG in human brain as determined by quantitative localized proton MRS NMR Biomed. 10 1997 73 78
33. D. Holowenko, J. Peeling, and G. Sutherland 1H NMR properties of N-acetylaspartylglutamate in extracts of nervous tissue of the rat NMR Biomed. 5 1992 43 47
34. H. Lei, Y. Zhang, X.H. Zhu, and W. Chen Changes in the proton T2 relaxation times of cerebral water and metabolites during forebrain ischemia in rat at 9.4 T Magn. Reson. Med. 49 2003 979 984
35. J. Urenjak, S.R. Williams, D.G. Gadian, and M. Noble Specific expression of N-acetylaspartate in neurons, oligodendrocyte-type-2 astrocyte progenitors, and immature oligodendrocytes in vitro J. Neurochem. 59 1992 55 61
36. M.H. Baslow 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 2002 295 300
37. G. Hauser, and V.N. Finelli The biosynthesis of free and phosphatide myo-inositol from glucose by mammalian tissue slices J. Biol. Chem. 238 1963 3224 3228
38. S.B. Coker, and A.R. Melnyk Rett syndrome and mitochondrial enzyme deficiencies J. Child Neurol. 6 1991 164 166
39. M.T. Dotti, L. Manneschi, A. Malandrini, N. De Stefano, F. Caznerale, and A. Federico Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study Brain Dev. 15 1993 103 106
40. T.J. Stradomska, A. Tylki-Szymanska, and Z. Bentkowski Very long-chain fatty acids in Rett syndrome Eur. J. Pediatr. 158 1999 226 229