Oxidative stress in Rett syndrome: Natural history, genotype, and variants

References

• Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutation in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23(2):185–8.
   PubMed Web of Science ®Google Scholar
• Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron 2007;56(3):422–37.
   PubMed Web of Science ®Google Scholar
• Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, et al. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 2005;14(14):1935–46.
   PubMed Web of Science ®Google Scholar
• Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008;83(1):89–93.
   PubMed Web of Science ®Google Scholar
• Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010;68(6):944–50.
   PubMed Web of Science ®Google Scholar
• Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev 2002;8(2):61–5.
   PubMedGoogle Scholar
• Calder PC, Yaqoob P. Understanding omega–3 polyunsaturated fatty acids. Postgrad Med 2009;121(6):148–57.
   PubMed Web of Science ®Google Scholar
• Christodoulou J, Grimm A, Maher T, Bennetts B. RettBASE: the IRSA MECP2 variation database – a new mutation database in evolution. Hum Mutat 2003;21(5):466–72.
   PubMed Web of Science ®Google Scholar
• Sampieri K, Meloni I, Scala E, Ariani F, Caselli R, Pescucci C, et al. Italian Rett database and biobank. Hum Mutat 2007;28(4):329–35.
   PubMed Web of Science ®Google Scholar
• Belayev L, Khoutorova L, Atkins KD, Eady TN, Hong S, Lu Y, et al. Docosahexaenoic acid therapy of experimental ischemic stroke. Transl Stroke Res 2011;2(1):33–41.
   PubMed Web of Science ®Google Scholar
• Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, et al. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 2008;70(16):1313–21.
   PubMed Web of Science ®Google Scholar
• De Felice C, Ciccoli L, Leoncini S, Signorini C, Rossi M, Vannuccini L, et al. Systemic oxidative stress in classic Rett syndrome. Free Radic Biol Med 2009;47(4):440–8.
   PubMed Web of Science ®Google Scholar
• Signorini C, Comporti M, Giorgi G. Ion trap tandem mass spectrometric determination of F2-isoprostanes. J Mass Spectrom 2003;38(10):1067–74.
   PubMed Web of Science ®Google Scholar
• Carouge D, Host L, Aunis D, Zwiller J, Anglard P. CDKL5 is a brain MeCP2 target gene regulated by DNA methylation. Neurobiol Dis 2010;38(3):414–24.
   PubMed Web of Science ®Google Scholar
• Renieri A, Mari F, Mencarelli MA, Scala E, Ariani F, Longo I, Meloni I, et al. Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain Dev 2009;31(3):208–16.
   PubMed Web of Science ®Google Scholar
• Pecorelli A, Ciccoli L, Signorini C, Leoncini S, Giardini A, D'Esposito M, et al. Increased levels of 4HNE-protein plasma adducts in Rett syndrome. Clin Biochem 2011;44(5–6):368–71.
   PubMed Web of Science ®Google Scholar
• Balagopalakrishna C, Manoharan PT, Abugo OO, Rifkind JM. Production of superoxide from hemoglobin-bound oxygen under hypoxic conditions. Biochemistry 1996;35(20):6393–8.
   PubMed Web of Science ®Google Scholar
• Ciccoli L, Rossi V, Leoncini S, Signorini C, Paffetti P, Bracci R, et al. Iron release in erythrocytes and plasma non protein-bound iron in hypoxic and non hypoxic newborns. Free Radic Res 2003;37(1):51–8.
   PubMed Web of Science ®Google Scholar
• Ciccoli L, Rossi V, Leoncini S, Signorini C, Blanco-Garcia J, Aldinucci C, et al. Iron release, superoxide production and binding of autologous IgG to band 3 dimers in newborn and adult erythrocytes exposed to hypoxia and hypoxia-reoxygenation. Biochim Biophys Acta 2004;1672(3):203–13.
   PubMed Web of Science ®Google Scholar
• Guy J, Gan J, Selfridge J, Cobb S, Bird A. Reversal of neurological defects in a mouse model of Rett syndrome. Science 2007;315(5815):1143–7.
   PubMed Web of Science ®Google Scholar
• 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 USA 2009;106(6):2029–34.
   PubMed Web of Science ®Google Scholar
• Cobb S, Guy J, Bird A. Reversibility of functional deficits in experimental models of Rett syndrome. Biochem Soc Trans 2010;38(2):498–506.
   PubMedGoogle Scholar
• Soderberg M, Edlund C, Kristensson K, Dallner G. Fatty acid composition of brain phospholipids in aging and in Alzheimer's disease. Lipids 1991;26(6):421–5.
   PubMed Web of Science ®Google Scholar
• Gamoh S, Hashimoto M, Sugioka K, Shahdat Hossain M, Hata N, Misawa Y, et al. Chronic administration of docosahexaenoic acid improves reference memory-related learning ability in young rats. Neuroscience 1999;93(1):237–41.
   PubMed Web of Science ®Google Scholar
• McGahon BM, Martin DS, Horrobin DF, Lynch MA. Age-related changes in synaptic function: analysis of the effect of dietary supplementation with omega-3 fatty acids. Neuroscience 1999;94(1):305–14.
   PubMed Web of Science ®Google Scholar
• Belayev L, Marcheselli VL, Khoutorova L, Rodriguez de Turco EB, Busto R, Ginsberg MD, et al. Docosahexaenoic acid complexed to albumin elicits high-grade ischemic neuroprotection. Stroke 2005;36(1):118–23.
   PubMed Web of Science ®Google Scholar
• Serhan CN, Gotlinger K, Hong S, Lu Y, Siegelman J, Baer T, et al. Anti-inflammatory actions of neuroprotectin D1/protectin D1 and its natural stereoisomers: assignments of dihydroxy-containing docosatrienes. J Immunol 2006;176(3):1848–59.
   PubMed Web of Science ®Google Scholar
• Simopoulos AP. Evolutionary aspects of diet: the omega-6/omega-3 ratio and the brain. Mol Neurobiol 2011; Epub, DOI: 10.1007/S12035-010-8162-0.
   PubMed Web of Science ®Google Scholar
• Hagiwara H, Nishiyama Y, Katayama Y. Effects of eicosapentaenoic acid on asymmetric dimethylarginine in patients in the chronic phase of cerebral infarction: a preliminary study. J Stroke Cerebrovasc Dis 2011; Epub, DOI: 10.1016/j.jstrokecerebrovasdis 2010.12.006.
   PubMed Web of Science ®Google Scholar
• Maezawa I, Jin LW. Rett syndrome microglia damage dendrites and synapses by the elevated release of glutamate. J Neurosci 2010;30(15):5346–56.
   PubMed Web of Science ®Google Scholar
• Kifayathullah LA, Arunachalam JP, Bodda C, Agbemenyah HY, Laccone FA, Mannan AU. MeCP2 mutant protein is expressed in astrocytes as well as in neurons and localizes in the nucleus. Cytogenet Genome Res 2010;129(4):290–7.
   PubMed Web of Science ®Google Scholar
• Maezawa I, Swanberg S, Harvey D, LaSalle JM, Jin LW. Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions. J Neurosci 2009;29(16):5051–61.
   PubMed Web of Science ®Google Scholar
• Ballas N, Lioy DT, Grunseich C, Mandel G. Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology. Nat Neurosci 2009;12(3):311–7.
   PubMed Web of Science ®Google Scholar
• Signorini C, De Felice C, Leoncini S, Giardini A, D'Esposito M, Filosa S, et al. F4-neuroprostanes mediate neurological severity in Rett syndrome. Clin Chim Acta 2011;412(15–16):1399–1406.
   PubMed Web of Science ®Google Scholar
• Gitschier J. On the tracks of DNA methylation: an interview to Adrian Bird. PLOS Genet 2009;5:e1000667. DOI: 10.1371/journal.pgen.1000667.
   PubMedGoogle Scholar
• Halliwell B, Gutteridge JMC. Free radicals, other reactive species and disease. In: , Halliwell B, Gutteridge JMC (eds.) Free radicals in biology and medicine. Oxford: Clarendon Press; 1999. p. 617–783.
   Google Scholar
• Seet RC, Lee CY, Lim EC, Tan JJ, Quek AM, Chong WL, et al. Oxidative damage in Parkinson disease: measurement using accurate biomarkers. Free Radic Biol Med 2010;48(4):560–6.
   PubMed Web of Science ®Google Scholar
• Sierra C, Vilaseca MA, Brandi N, Artuch R, Mira A, Nieto M, et al. Oxidative stress in Rett syndrome. Brain Dev 2001;23(S1):236–9.
   PubMedGoogle Scholar
• Rett A. Uber ein eigartiges hirnatrophisches Syndrom bei Hyperammoniamie in Kindesalter. Wien Med Wochenschr 1966;116(37):723–6.
   PubMedGoogle Scholar
• Lintas C, Sacco R, Persico AM. Genome-wide expression studies in Autism spectrum disorder, Rett syndrome, and Down syndrome. Neurobiol Dis 2010; Epub, DOI: 10.1016/j.nbd.2010.11.010.
   PubMed Web of Science ®Google Scholar
• Ruch A, Kurczynski TW, Velasco ME. Mitochondrial alterations in Rett syndrome. Pediatr Neurol 1989;5(5):320–3.
   PubMed Web of Science ®Google Scholar
• Wakai S, Kameda K, Ishikawa Y, Miyamoto S, Nagaoka M, Okabe M, et al. Rett syndrome: findings suggesting axonopathy and mitochondrial abnormalities. Pediatr Neurol 1990;6(5):339–43.
   PubMed Web of Science ®Google Scholar
• Cornford ME, Philippart M, Jacobs B, Scheibel AB, Vinters HV. Neuropathology of Rett syndrome: case report with neuronal and mitochondrial abnormalities in the brain. J Child Neurol 1994;9(4):424–31.
   PubMed Web of Science ®Google Scholar
• Coker SB, Melnyk AR. Rett syndrome and mitochondrial enzyme deficiencies. J Child Neurol 1991;6(2):164–6.
   PubMed Web of Science ®Google Scholar
• Heilstedt HA, Shahbazian MD, Lee B. Infantile hypotonia as a presentation of Rett syndrome. Am J Med Genet 2002;111(3):238–42.
   PubMed Web of Science ®Google Scholar
• Finsterer J. Mitochondriopathies. Eur J Neurol 2004;11(3):163–86.
   PubMed Web of Science ®Google Scholar
• Gibson JH, Slobedman B, Kaipananickal H, Williamson SL, Minchenko D, El-Osta A, Stern JL, et al. Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain. BMC Neurosci 2010;11:53.
   PubMed Web of Science ®Google Scholar
• Kriaucionis S, Paterson A, Curtis J, Guy J, MacLeod N, Bird A. Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome. Molec Cell Biol 2006;26(13):5033–42.
   PubMed Web of Science ®Google Scholar
• Zoghbi HY, Warren ST. Neurogenetics: advancing the “next-generation” of brain research. Neuron 2010;68(2):165–73.
   PubMed Web of Science ®Google Scholar