Autism: A systems biology disease

Proceedings - 2011 1st IEEE International Conference on Healthcare Informatics, Imaging and Systems Biology, HISB 2011

Volumn , Issue , 2011, Pages 359-366

  Randolph Gips, Mary ^a  

^a UNIVERSITY OF HOUSTON CLEAR LAKE   (United States)

Author keywords

autism; gastrointestinal; immune; metabolic; modeling; neurological; oxidative stress; systems biology

Indexed keywords

AUTISM; GASTROINTESTINAL; IMMUNE; METABOLIC; NEUROLOGICAL; SYSTEMS BIOLOGY;

EQUIPMENT TESTING; HEALTH CARE; INFORMATION SCIENCE; METABOLISM; MODELS; OXIDATIVE STRESS;

DISEASES;

EID: 81355136256     PISSN: None     EISSN: None     Source Type: Conference Proceeding    
DOI: 10.1109/HISB.2011.13     Document Type: Conference Paper

References (93)

1. E. Fombonne, "Epidemiological surveys of autism and other pervasive developmental disorders: an update," J Autism Dev Disord, vol. 33, pp. 365-82, Aug 2003. (Pubitemid 37127933)
2. M. D. Kogan, et al., "Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007," Pediatrics, vol. 124, pp. 1395-403, Nov 2009.
3. A. P. Association, " Diagnostic and statistical manual of mental disorders (4th ed.)," A. P. Association, Ed., ed. Washington D.C., 1994.
4. S. E. Folstein and B. Rosen-Sheidley, "Genetics of autism: complex aetiology for a heterogeneous disorder," Nat Rev Genet, vol. 2, pp. 943-55, Dec 2001. (Pubitemid 33691091)
5. C. M. Freitag, "The genetics of autistic disorders and its clinical relevance: a review of the literature," Mol Psychiatry, vol. 12, pp. 2-22, Jan 2007.
6. S. J. James, "Oxidative Stress and the Metabolic Pathology of Autism," in Autism Current Theories and Evidence, A. W. Zimmerman, Ed., ed Totowa, NJ USA: Humana Press, 2008, pp. 245-268.
7. J. Gohlke, et al., "Genetic and environmental pathways to complex diseases," BMC Systems Biology, vol. 3, p. 46, 2009.
8. M. R. Herbert, et al., "Autism and environmental genomics," Neurotoxicology, vol. 27, pp. 671-684, 2006.
9. R. Deth, et al., "How environmental and genetic factors combine to cause autism: A redox/methylation hypothesis," Neurotoxicology, vol. 29, pp. 190-201, 2008.
10. D. B. Campbell, et al., "Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions," Pediatrics, vol. 123, pp. 1018-24, Mar 2009.
11. D. B. Campbell, et al., "Disruption of cerebral cortex MET signaling in autism spectrum disorder," Ann Neurol, vol. 62, pp. 243-50, Sep 2007.
12. S. J. James, "Oxidative Stress and the Metabolic Pathology of Autism," in Autism : current theories and evidence, A. W. Zimmerman, Ed., ed Totowa, NJ: Humana Press, 2008, pp. xix, 474 p.
13. R. Deth and C. Muratore, "The Redox/Methylation Hypothosis of Autism: A Molecular Mechanism for Heavy Metal-Induced Neurotoxicity," in Autism: Oxidative Stress, Inflammation, and Immune Abnormalities, A. Chauhan and V. Chauhan, Eds., ed Boca Raton, FL USA: CRC Press, 2010.
14. N. C. Schanen, "Epigenetics of autism spectrum disorders," Hum Mol Genet, vol. 15 Spec No 2, pp. R138-50, Oct 15 2006.
15. M. Ott, et al., "Mitochondria, oxidative stress and cell death," Apoptosis, vol. 12, pp. 913-922, May 2007. (Pubitemid 46653300)
16. S. J. James, "Oxidative Stress and the Metabolic Pathology of Autism " in Autism Current Theories and Evidence, A. W. Zimmerman, Ed., ed Little Rock, AK USA: Humana Press, 2009, pp. 245-268.
17. S. J. James, et al., "Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism," Am J Clin Nutr, vol. 80, pp. 1611-7, Dec 2004.
18. S. J. James, et al., "Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism," Am J Med Genet B Neuropsychiatr Genet, vol. 141B, pp. 947-56, Dec 5 2006. (Pubitemid 44905454)
19. Y. Yao, et al., "Altered vascular phenotype in autism: correlation with oxidative stress," Arch Neurol, vol. 63, pp. 1161-4, Aug 2006. (Pubitemid 44232325)
20. M. R. Loeken, "Free radicals and birth defects," J Matern Fetal Neonatal Med, vol. 15, pp. 6-14, Jan 2004.
21. R. Dringen, "Glutathione metabolism and oxidative stress in neurodegeneration," Eur J Biochem, vol. 267, p. 4903, Aug 2000. (Pubitemid 30641285)
22. P. Kovacic and J. D. Jacintho, "Systemic lupus erythematosus and other autoimmune diseases from endogenous and exogenous agents: unifying theme of oxidative stress," Mini Rev Med Chem, vol. 3, pp. 568-75, Sep 2003.
23. J. K. Yao, et al., "Altered glutathione redox state in schizophrenia," Dis Markers, vol. 22, pp. 83-93, 2006.
24. B. N. Frey, et al., "Increased oxidative stress and DNA damage in bipolar disorder: a twin-case report," Prog Neuropsychopharmacol Biol Psychiatry, vol. 31, pp. 283-5, Jan 30 2007.
25. S. Tilleux and E. Hermans, "Neuroinflammation and regulation of glial glutamate uptake in neurological disorders," J Neurosci Res, vol. 85, pp. 2059-70, Aug 1 2007. (Pubitemid 47172138)
26. J. K. Yao, et al., "Oxidative damage and schizophrenia: an overview of the evidence and its therapeutic implications," CNS Drugs, vol. 15, pp. 287-310, 2001.
27. S. J. James, et al., "Efficacy of methylcobalamin and folinic acid treatment on glutathione redox status in children with autism," Am J Clin Nutr, vol. 89, pp. 425-30, Jan 2009.
28. M. Herbert, "Autism: A brain disorder or a disorder that affects the brain?," Neurotoxicology, vol. 27, pp. 1151-1152, Dec 2006.
29. I. Hertz-Picciotto, et al., "The CHARGE study: an epidemiologic investigation of genetic and environmental factors contributing to autism," Environ Health Perspect, vol. 114, pp. 1119-25, Jul 2006. (Pubitemid 44018911)
30. I. N. Pessah, et al., "Immunologic and neurodevelopmental susceptibilities of autism," Neurotoxicology, vol. 29, pp. 532-545, May 2008.
31. A. I. Andreyev, et al., "Mitochondrial metabolism of reactive oxygen species," Biochemistry-Moscow, vol. 70, pp. 200-214, Feb 2005.
32. D. Skladal, et al., "The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients," Clinical Pediatrics, vol. 42, pp. 703-710, October 1, 2003 2003.
33. D. A. Rossignol and R. E. Frye, "Mitochondrial dysfunction in autism spectrum disorders: a systematic review and metaanalysis," Mol Psychiatry, 2011.
34. J. R. Weissman, et al., "Mitochondrial disease in autism spectrum disorder patients: a cohort analysis," PLoS One, vol. 3, p. e3815, 2008.
35. N. Ramoz, et al., "Linkage and association of the mitochondrial aspartate/ glutamate carrier SLC25A12 gene with autism," American Journal of Psychiatry, vol. 161, pp. 662-669, Apr 2004. (Pubitemid 38445510)
36. W. D. Graf, et al., "Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation," Journal of Child Neurology, vol. 15, pp. 357-361, Jun 2000.
37. P. A. Filipek, et al., "Mitochondrial dysfunction in autistic patients with 15q inverted duplication," Annals of Neurology, vol. 53, pp. 801-804, Jun 2003.
38. J. M. Silverman, et al., "Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism," American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, vol. 147B, pp. 408-410, Apr 5 2008.
39. M. T. Lin and M. F. Beal, "Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases," Nature, vol. 443, pp. 787-795, Oct 19 2006.
40. D. A. Rossignol and J. J. Bradstreet, "Evidence of Mitochondrial Dysfunction in Autism and Implications for Treatment," American Journal of Biochemistry & Biotechnology, vol. 4, pp. 208-217, 2008.
41. C. Correia, et al., "Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene," J Autism Dev Disord, vol. 36, pp. 1137-40, Nov 2006. (Pubitemid 46020366)
42. J. J. Gargus and I. Faiqa, "Mitochondrial Energy-Deficient Endophenotype in Autism," ed: Science Publications, 2008.
43. G. Oliveira, et al., "Mitochondrial dysfunction in autism spectrum disorders: a population-based study," Dev Med Child Neurol, vol. 47, pp. 185-9, Mar 2005. (Pubitemid 40277824)
44. A. J. Russo, "Decreased Serum Cu/Zn SOD in Children with Autism," Nutrition and Metabolic Insights, vol. 2009, p. 27, 2010.
45. J. Gargus, "Mitochondrial Component of Calcium Signaling Abnormality in Autism," in Autism, Oxidative Stress, Inflamation and Immune Abnormalities, A. Chauhan and V. Chauhan, Eds., ed Boca Raton FL USA: CRC Press, 2010, pp. 207-224.
46. L. Palmieri, et al., "Altered calcium homeostasis in autismspectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1," Mol Psychiatry, vol. 15, pp. 38-52, Jan 2010.
47. T. L. Sweeten, et al., "Increased prevalence of familial autoimmunity in probands with pervasive developmental disorders," Pediatrics, vol. 112, p. e420, Nov 2003.
48. P. Ashwood, et al., "Spontaneous mucosal lymphocyte cytokine profiles in children with autism and gastrointestinal symptoms: mucosal immune activation and reduced counter regulatory interleukin," J. Clin. Immunol, vol. 10, pp. 664-673, 2004. (Pubitemid 40933118)
49. S. Gupta, et al., "Th1- and Th2-like cytokines in CD4+ and CD8+ T cells in autism," Journal of Neuroimmunology, vol. 85, pp. 106-109, 1998. (Pubitemid 28255444)
50. C. A. Molloy, et al., "Elevated cytokine levels in children with autism spectrum disorder," J Neuroimmunol, vol. 172, pp. 198-205, Mar 2006.
51. J. Croonenberghs, et al., "Increased serum albumin, gamma globulin, immunoglobulin IgG, and IgG2 and IgG4 in autism," Psychol Med, vol. 32, pp. 1457-63, Nov 2002. (Pubitemid 35385656)
52. R. I. Furlano, et al., "Colonic CD8 and gamma delta T-cell infiltration with epithelial damage in children with autism," J Pediatr, vol. 138, pp. 366-72, Mar 2001.
53. V. Trajkovski, et al., "Plasma concentration of immunoglobulin classes and subclasses in children with autism in the Republic of Macedonia: retrospective study," Croat Med J, vol. 45, pp. 746-9, Dec 2004. (Pubitemid 40052932)
54. I. Krause, et al., "Brief report: immune factors in autism: a critical review," J Autism Dev Disord, vol. 32, pp. 337-45, Aug 2002. (Pubitemid 37490184)
55. D. L. Vargas, et al., "Neuroglial activation and neuroinflammation in the brain of patients with autism," Ann Neurol, vol. 57, pp. 67-81, Jan 2005.
56. C. Pardo-VIllamizar and A. Zimmerman, "Inflamation and Neuroimmunity in the Pathogenisis of Autism," in Autism: Oxidative Stress, Inflammation, and Immune Abnormalities, V. C. Abha Chauhan, Ed., ed Boca Raton FL USA: CRC Press, 2009, pp. 225-244.
57. P. Ashwood, et al., "The immune response in autism: a new frontier for autism research," J Leukoc Biol, vol. 80, pp. 1-15, Jul 2006. (Pubitemid 44841805)
58. J. Kipnis, et al., "T cell deficiency leads to cognitive dysfunction: implications for therapeutic vaccination for schizophrenia and other psychiatric conditions," Proc Natl Acad Sci U S A, vol. 101, pp. 8180-5, May 25 2004. (Pubitemid 38698074)
59. H. Jyonouchi, "Autism spectrum disorders and allergy: observation from a pediatric allergy/immunology clinic," Expert Rev Clin Immunol, vol. 6, pp. 397-411, May 2010.
60. M. F. Mehler and D. P. Purpura, "Autism, fever, epigenetics and the locus coeruleus," Brain Res Rev, vol. 59, pp. 388-92, Mar 2009.
61. Y. D'Souza, et al., "No Evidence of Persisting Measles Virus in Peripheral Blood Mononuclear Cells From Children With Autism Spectrum Disorder," Pediatrics, vol. 118, pp. 1664- 1675, October 1, 2006 2006.
62. T. Buie, et al., "Evaluation, Diagnosis, and Treatment of Gastrointestinal Disorders in Individuals With ASDs: A Consensus Report," Pediatrics, vol. 125, pp. S1-18, January 1, 2010 2010.
63. K. Horvath and J. A. Perman, "Autistic disorder and gastrointestinal disease," Curr Opin Pediatr, vol. 14, pp. 583- 7, Oct 2002.
64. P. Ashwood, et al., "Spontaneous mucosal lymphocyte cytokine profiles in children with autism and gastrointestinal symptoms: mucosal immune activation and reduced counter regulatory interleukin-10," J Clin Immunol, vol. 24, pp. 664-73, Nov 2004. (Pubitemid 40933118)
65. A. Krigsman, et al., "Clinical Presentation and Histologic Findings at Ileocolonoscopy in Children with Autistic Spectrum Disorder and Chronic Gastrointestinal Symptoms," Autism Insights, vol. 2010, p. 1, 2010.
66. F. Torrente, et al., "Small intestinal enteropathy with epithelial IgG and complement deposition in children with regressive autism," Mol Psychiatry, vol. 7, pp. 375-82, 334, 2002.
67. K. Horvath, et al., "Gastrointestinal abnormalities in children with autistic disorder," J Pediatr, vol. 135, pp. 559-63, Nov 1999. (Pubitemid 30180444)
68. A. J. Wakefield, et al., "Enterocolitis in children with developmental disorders," Am J Gastroenterol, vol. 95, pp. 2285-95, Sep 2000.
69. P. D'Eufemia, et al., "Abnormal intestinal permeability in children with autism," Acta Paediatr, vol. 85, pp. 1076-9, Sep 1996. (Pubitemid 26302768)
70. F. Torrente, et al., "Focal-enhanced gastritis in regressive autism with features distinct from Crohn's and Helicobacter pylori gastritis," Am J Gastroenterol, vol. 99, pp. 598-605, Apr 2004. (Pubitemid 38607959)
71. A. Fasano, "Intestinal zonulin: open sesame!," Gut, vol. 49, pp. 159-62, Aug 2001.
72. Y. J. Choi, et al., "Polychlorinated Biphenyls Disrupt Intestinal Integrity via NADPH Oxidase-Induced Alterations of Tight Junction Protein Expression," Environ Health Perspect, vol. 118, pp. 976-81, Jul 2010.
73. H. Jyonouchi, et al., "Evaluation of an association between gastrointestinal symptoms and cytokine production against common dietary proteins in children with autism spectrum disorders," The Journal of Pediatrics, vol. 146, pp. 605-610, 2005. (Pubitemid 40616244)
74. P. Srinivasan, "A review of dietary interventions in autism," Annals of Clinical Psychiatry, vol. 21, pp. 237-47, 2009.
75. D. G. Amaral, et al., "Neuroanatomy of autism," Trends Neurosci, vol. 31, pp. 137-45, Mar 2008.
76. E. Courchesne, et al., "Unusual brain growth patterns in early life in patients with autistic disorder: an MRI study," Neurology, vol. 57, pp. 245-54, Jul 24 2001. (Pubitemid 32667357)
77. M. R. Herbert, "Large brains in autism: the challenge of pervasive abnormality," Neuroscientist, vol. 11, pp. 417-40, Oct 2005.
78. M. Casanova, et al., " Disruption in the inhibitory architecture of the cell minicolumn: implications for autism., " Neuroscientist, vol. 9, pp. 496-507, 2003. (Pubitemid 37474179)
79. M. F. Casanova, et al., "Minicolumnar abnormalities in autism," Acta Neuropathologica, vol. 112, pp. 287-303, Sep 2006.
80. M. F. Casanova, et al., "Comparative minicolumnar morphometry of three distinguished scientists," Autism, vol. 11, pp. 557-569, Nov 2007.
81. S. Baron-Cohen, et al., "Autism occurs more often in families of physicists,engineers, and mathematicians., " Autism, pp. 296-301, 1998.
82. J. L. Rubenstein and M. M. Merzenich, "Model of autism: increased ratio of excitation/inhibition in key neural systems," Genes Brain Behav, vol. 2, pp. 255-67, Oct 2003.
83. M. A. Just, et al., "Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity," Brain, vol. 127, pp. 1811-21, Aug 2004.
84. M. K. Belmonte, et al., "Autism as a disorder of neural information processing: directions for research and targets for therapy," Molecular Psychiatry, vol. 9, pp. 646-663, Jul 2004.
85. M. P. Anderson, et al., "Bridging from Cells to Cognition in Autism Pathophysiology: Biological Pathways to Defective Brain Function and Plasticity," American Journal of Biochemistry and Biotechnology vol. 4, pp. 167-176, 2008.
86. R. Tuchman, et al., "Autism and epilepsy: Historical perspective," Brain Dev, May 24 2010.
87. R. E. Frye, et al., "Electroencephalogram discharges in atypical cognitive development," Journal of Child Neurology, vol. 25, pp. 556-66, May 2010.
88. R. C. Deth, Molecular Origins of Human Attention: Kluwer Academic Publishers, 2003.
89. K. Powell, "Opening a window to the autistic brain," PLoS Biol, vol. 2, p. E267, Aug 2004.
90. J. Pearl, Causality: Models, Reasoning, and Inference. Cambridge: Cambridge University Press, 2000.
91. P. Kohl and D. Noble, "Systems biology and the virtual physiological human," Molecular Systems Biology, vol. 5, pp. -, Jul 2009.
92. W. Oh, et al., "The cross-generation effect of neonatal macrosomia in rat pups of streptozotocin-induced diabetes," Pediatr Res, vol. 29, pp. 606-10, Jun 1991.
93. J. Boloker, et al., "Gestational diabetes leads to the development of diabetes in adulthood in the rat," Diabetes, vol. 51, pp. 1499-506, May 2002. (Pubitemid 34826617)