Down Syndrome as a Special Case of Oxidatively Induced Developmental Dysregulation

作者: Marzia Perluigi , D. Allan Butterfield

DOI: 10.1007/978-1-4939-1405-0_7

关键词:

摘要: Down syndrome (DS), trisomy 21, is the most common genetic form of intellectual disability. Life expectancy for DS population has improved, although with increasing age, pathological dysfunctions are exacerbated and disability degenerates in cases a dementia that closely resembles Alzheimer disease (AD). The neuropathology results from combination several factors among which free radical metabolism mitochondrial function key players major contributors to neuronal degeneration. Indeed, many genes encoded by chromosome 21 responsible increased oxidative stress (OS) conditions also result as consequence decreased antioxidant defense further exaggerated presence dysfunction.

参考文章(87)
Nadya Druzhyna, Raj G. Nair, Susan P. LeDoux, Glenn L. Wilson, Defective repair of oxidative damage in mitochondrial DNA in Down's syndrome Mutation Research-dna Repair. ,vol. 409, pp. 81- 89 ,(1998) , 10.1016/S0921-8777(98)00042-1
W.S.T. Griffin, J.G. Sheng, J.E. McKenzie, M.C. Royston, S.M. Gentleman, R.A. Brumback, L.C. Cork, M.R. Del Bigio, G.W. Roberts, R.E. Mrak, Life-long overexpression of S100β in Down’s syndrome: implications for Alzheimer pathogenesis Neurobiology of Aging. ,vol. 19, pp. 401- 405 ,(1998) , 10.1016/S0197-4580(98)00074-8
Katrin Beyer, Jose Lao, Cristina Carrato, Ana Rodriguez-Vila, Pilar Latorre, Maria Mataro, Maria Llopis, Jose Mate, Aurelio Ariza, Cystathionine beta synthase as a risk factor for Alzheimer disease. Current Alzheimer Research. ,vol. 1, pp. 127- 133 ,(2004) , 10.2174/1567205043332243
D Allan Butterfield, Veronica Galvan, Miranda Bader Lange, Huidong Tang, Renã A Sowell, Patricia Spilman, Joanna Fombonne, Olivia Gorostiza, Junli Zhang, Rukhsana Sultana, Dale E Bredesen, None, In vivo oxidative stress in brain of Alzheimer disease transgenic mice: Requirement for methionine 35 in amyloid β-peptide of APP Free Radical Biology and Medicine. ,vol. 48, pp. 136- 144 ,(2010) , 10.1016/J.FREERADBIOMED.2009.10.035
Domenico Pratic�, Luigi Iuliano, Giulia Amerio, Lina X. Tang, Joshua Rokach, Giuseppe Sabatino, Francesco Violi, Down's syndrome is associated with increased 8,12-iso-iPF2alpha-VI levels: evidence for enhanced lipid peroxidation in vivo. Annals of Neurology. ,vol. 48, pp. 795- 798 ,(2000) , 10.1002/1531-8249(200011)48:5<795::AID-ANA15>3.0.CO;2-#
Pierre Kamoun, Maria-Cristina Belardinelli, Allel Chabli, Karim Lallouchi, Bernadette Chadefaux-Vekemans, Endogenous hydrogen sulfide overproduction in Down syndrome. American Journal of Medical Genetics Part A. ,vol. 116, pp. 310- 311 ,(2003) , 10.1002/AJMG.A.10847
Ira Lott, Elizabeth Head, Eric Doran, Jorge Busciglio, Beta-amyloid, oxidative stress and down syndrome. Current Alzheimer Research. ,vol. 3, pp. 521- 528 ,(2006) , 10.2174/156720506779025305
Giovanna Cenini, Amy L.S. Dowling, Tina L. Beckett, Eugenio Barone, Cesare Mancuso, Michael Paul Murphy, Harry LeVine, Ira T. Lott, Frederick A. Schmitt, D. Allan Butterfield, Elizabeth Head, Association between frontal cortex oxidative damage and beta-amyloid as a function of age in Down syndrome Biochimica et Biophysica Acta. ,vol. 1822, pp. 130- 138 ,(2012) , 10.1016/J.BBADIS.2011.10.001
Burton L. Shapiro, J. Hermann, J. M. Opitz, Down syndrome--a disruption of homeostasis. American Journal of Medical Genetics. ,vol. 14, pp. 241- 269 ,(1983) , 10.1002/AJMG.1320140206
Aggeliki Kolialexi, Georgia Tounta, Ariadni Mavrou, George Th Tsangaris, Proteomic analysis of amniotic fluid for the diagnosis of fetal aneuploidies Expert Review of Proteomics. ,vol. 8, pp. 175- 185 ,(2011) , 10.1586/EPR.10.112