The frequency of polymorphisms affecting lead and mercury toxicity among children with autism

American Journal of Biochemistry and Biotechnology

Volumn 4, Issue 2, 2008, Pages 85-94

  Rose, Shannon ^a   Melnyk, Stepan ^a   Savenka, Alena ^a   Hubanks, Amanda ^a   Jernigan, Stefanie ^a   Cleves, Mario ^a   James, S Jill ^a,b  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^b ARKANSAS CHILDREN S HOSPITAL RESEARCH INSTITUTE   (United States)

Author keywords

ALAD; Autism; CPOX; Lead; Polymorphism; Toxicity

Indexed keywords

DISEASES; LEAD; MAMMALS; MERCURY (METAL); TOXICITY;

AUTISM; GENETIC SUSCEPTIBILITY FACTORS;

POLYMORPHISM;

ANTIOXIDANT; COPROPORPHYRINOGEN OXIDASE; COPROPORPHYRINOGEN OXIDASE 4; COPROPORPHYRINOGEN OXIDASE 5; DELTA AMINOLEVULINIC ACID DEHYDRATASE 2; GLUTATHIONE; LEAD; MERCURY; PORPHOBILINOGEN SYNTHASE; UNCLASSIFIED DRUG;

ADOLESCENT; ALLELE; ARTICLE; AUTISM; BRAIN DEVELOPMENT; CHILD; CONTROLLED STUDY; DISEASE PREDISPOSITION; ENVIRONMENTAL FACTOR; ENZYME BLOOD LEVEL; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; LEAD BLOOD LEVEL; LEAD POISONING; MAJOR CLINICAL STUDY; MERCURIALISM; NEUROTOXICITY; OXIDATION REDUCTION REACTION; OXIDATIVE STRESS; POSTNATAL DEVELOPMENT; PRENATAL DEVELOPMENT; RISK ASSESSMENT;

EID: 42449083192     PISSN: 15533468     EISSN: None     Source Type: Journal    
DOI: 10.3844/ajbbsp.2008.85.94     Document Type: Article

References (60)

1. Bailey, A., A. Le Couteur, I. Gottesman, P. Bolton, E. Simonoff, E. Yuzda, and M. Rutter, 1995. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol. Med., 25: 63-77.
2. London, E.A., 2000. The environment as an etiologic factor in autism: a new direction for research. Environ. Health Perspect., 108 (Suppl. 3): 401-404.
3. Lawler, C.P., L.A. Croen, J.K. Grether and J. Van de Water, 2004. Identifying environmental contributions to autism: Provocative clues and false leads. Ment. Retard. Dev. Disabil. Res. Rev., 10: 292-302.
4. Stein, J., T. Schettler, D. Wallinga, and M. Valenti, 2002. In harm's way: Toxic threats to child development. J. Dev. Behav. Pediatr., 23: S13-S22.
5. Grandjean, P. and P.J. Landrigan, 2006. Developmental neurotoxicity of industrial chemicals. Lancet, 368: 2167-2178.
6. Li, Z., T. Dong, C. Proschel, and M. Noble, 2007. Chemically diverse toxicants converge on Fyn and c-Cbl to disrupt precursor cell function. PLoS. Biol., 5: e35.
7. Han, D., R. Canali, D. Rettori, and N. Kaplowitz, 2003. Effect of glutathione depletion on sites and topology of superoxide and hydrogen peroxide production in mitochondria. Mol. Pharmacol., 64: 1136-1144.
8. James, S.J., S. Melnyk, S. Jernigan, M.A. Cleves, C.H. Halsted, D.J. Wong, P. Cutler, M. Boris, K. Bock, J.J. Bradstreet, S.B. Baker and D.W. Gaylor, 2006. Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism. Am. J. Med. Genet., 141B: 947-956.
9. Ming, X., T.P. Stein, M. Brimacombe, W.G. Johnson, G.H. Lambert and G.C. Wagner, 2005. Increased excretion of a lipid peroxidation biomarker in autism. Prostaglandins Leukot. Essent. Fatty Acids, 73: 379-384.
10. Yorbik, O., A. Sayal, C. Akay, D. I. Akbiyik, and T. Sohmen, 2002. Investigation of antioxidant enzymes in children with autistic disorder. Prostaglandins Leukot. Essent. Fatty Acids, 67: 341-343.
11. Chauhan, A. and V. Chauhan, 2006. Oxidative stress in autism. Patholphysiology, 13: 171-181.
12. Kern, J.K. and A.M. Jones, 2006. Evidence of toxicity, oxidative stress, and neuronal insult in autism. J. Toxicol. Environ. Health B Crit. Rev., 9: 485-499.
13. Sogut, S., S.S. Zoroglu, H. Ozyurt, Y.H. Ramazan, F. Ozugurlu, E. Sivasli, O. Yetkin, M. Yanik, H. Tutkun, H. A. Savas, M. Tarakcioglu, and O. Akyol, 2003. Changes in nitric oxide levels and antioxidant enzyme activities may have a role in the pathophysiological mechanisms involved in autism. Clin. Chim. Acta, 331: 111-117.
14. Zoroglu, S.S., F. Armutcu, S. Ozen, A. Gurel, E. Sivasli, O. Yetkin, and I. Meram, 2004. Increased oxidative stress and altered activities of erythrocyte free radical scavenging enzymes in autism. Eur. Arch. Psychiatry Clin. Neurosci., 254: 143-147.
15. Yao, Y., W.J. Walsh, W.R. McGinnis and D. Pratico, 2006. Altered vascular phenotype in autism: Correlation with oxidative stress. Arch. Neurol., 63: 1161-1164.
16. McGinnis, W.R., 2004. Oxidative stress in autism. Altern. Ther. Health Med., 10: 22-36.
17. James, S.J., P. Cutler, S. Melnyk, S. Jernigan, L. Janak, D.W. Gaylor and J.A. Neubrander, 2004. Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism. Am. J Clin. Nutr., 80: 1611-1617.
18. Costa, L.G., M. Aschner, A. Vitalone, T. Syversen and O.P. Soldin, 2004. Developmental neuropathology of environmental agents. Annu. Rev. Pharmacol. Toxicol., 44: 87-110.
19. Shanker, G. and M. Aschner, 2003. Methylmercury-induced reactive oxygen species formation in neonatal cerebral astrocytic cultures is attenuated by antioxidants. Mol. Brain Res., 110: 85-91.
20. Davidson, P.W., G.J. Myers, and B. Weiss, 2004. Mercury exposure and child development outcomes. Pediatr., 113: 1023-1029.
21. Sanfeliu, C., J. Sebastia, R. Cristofol and E. Rodriguez-Farre, 2003. Neurotoxicity of organomercurial compounds. Neurotox. Res., 5: 283-305.
22. Woods, J.S., D. Echeverria, N.J. Heyer, P.L. Simmonds, J. Wilkerson and F.M. Farin, 2005. The association between genetic polymorphisms of coproporphyrinogen oxidase and an atypical porphyrinogenic response to mercury exposure in humans. Toxicol. Appl. Pharmacol., 206: 113-120.
23. Nataf, R., C. Skorupka, L. Amet, A. Lam, A. Springbett and R. Lathe, 2006. Porphyrinuria in childhood autistic disorder: Implications for environmental toxicity. Toxicol. Appl. Pharmacol., 214: 99-108.
24. Beri, R. and R Chandra, 1993. Chemistry and biology of heme. Effect of metal salts, organometals and metalloporphyrins on heme synthesis and catabolism, with special reference to clinical implications and interactions with cytochrome P-450. Drug Metab. Rev., 25: 49-152.
25. Palmer, R.F., S. Blanchard, Z. Stein, D. Mandell and C. Miller, 2006. Environmental mercury release, special education rates, and autism disorder: an ecological study of Texas. Health Place., 12: 203-209.
26. Windham, G.C., L. Zhang, R. Gunier, L.A. Croen and J.K. Grether, 2006. Autism spectrum disorders in relation to distribution of hazardous air pollutants in the san francisco bay area. Environ. Health Perspect., 114: 1438-1444.
27. Bernard, S., A. Enayati, H. Roger, T. Binstock and L. Redwood, 2002. The role of mercury in the pathogenesis of autism. Mol. Psychiat., 7 (Suppl. 2): S42-S43.
28. Woods, J.S., D. Echeverria, N.J. Heyer, P.L. Simmonds, J. Wilkerson and F.M. Farin, 2005. The association between genetic polymorphisms of coproporphyrinogen oxidase and an atypical porphyrinogenic response to mercury exposure in humans. Toxicol. Appl. Pharmacol2, 206: 113-120.
29. Montenegro, M.F., F. Barbosa Jr., V.C. Sandrim, R.F. Gerlach and J.E. Tanus-Santos, 2006. A polymorphism in the delta-aminolevulinic acid dehydratase gene modifies plasma/whole blood lead ratio. Arch. Toxicol., 80: 394-398.
30. Astrin, K.H., D.F. Bishop, J.G. Wetmur, B. Kaul, B. Davidow and R. J. Desnick, 1987. delta-Aminolevulinic acid dehydratase isozymes and lead toxicity. Ann. N.Y. Acad. Sci., 514: 23-29.
31. Perottoni, J., L.P. Lobato, A. Silveira, J.B. Rocha and T. Emanuelli, 2004. Effects of mercury and selenite on delta-aminolevulinate dehydratase activity and on selected oxidative stress parameters in rats. Environ. Res., 95: 166-173.
32. Fujita, H., C. Nishitani and K. Ogawa, 2002. Lead, chemical porphyria, and heme as a biological mediator. Tohoku J. Exp. Med., 196: 53-64.
33. Daniell, W.E., H.L. Stockbridge, R.F. Labbe, J.S. Woods, K.E. Anderson, D.M. Bissell, J.R. Bloomer, R.D. Ellefson, M.R. Moore, C.A. Pierach, W.E. Schreiber, A. Tefferi and G.M. Franklin, 1997. Environmental chemical exposures and disturbances of heme synthesis. Environ. Health Perspect., 105 (Suppl. 1): 37-53.
34. Fowler, B.A., 2001. Porphyrinurias induced by mercury and other metals. Toxicol. Sci., 61: 197-198.
35. Heyer, N.J., A.C. Bittner Jr., D. Echeverria and J.S. Woods, 2006. A cascade analysis of the interaction of mercury and coproporphyrinogen oxidase (CPOX) polymorphism on the heme biosynthetic pathway and porphyrin production. Toxicol. Lett., 161: 159-166.
36. Woods, J.S., M.A. Bowers and H.A. Davis, 1991. Urinary porphyrin profiles as biomarkers of trace metal exposure and toxicity: Studies on urinary porphyrin excretion patterns in rats during prolonged exposure to methyl mercury. Toxicol. Appl. Pharmacol., 110: 464-476.
37. Woods, J.S., C.A. Calas and L.D. Aicher, 1990. Stimulation of porphyrinogen oxidation by mercuric ion. II. Promotion of oxidation from the interaction of mercuric ion, glutathione and mitochondria-generated hydrogen peroxide. Mol. Pharmacol., 38: 261-266.
38. Woods, J.S., 1988. Attenuation of porphyrinogen oxidation by glutathione in vitro and reversal by porphyrinogenic trace metals. Biochem. Biophys. Res. Commun., 152: 1428-1434.
39. Pogribna, M., S. Melnyk, I. Pogribny, A. Chango, P. Yi and S.J. James, 2001. Homocysteine metabolism in children with Down syndrome: In vitro modulation. Am. J. Human Genet., 69: 88-95.
40. Innis, S.M., A.G.F. Davidson, A. Chen, R. Dyer, S. Melnyk and S.J. James, 2003. Increased plasma homocysteine and S-adenosylhomocysteine and decreased methionine is associated with altered phosphatidylcholine and phosphatidylethanolamine in cystic fibrosis. J. Pediatr., 143: 351-356.
41. Hobbs, C.A., M.A. Cleves, S. Melnyk, W.Z. Zhao and S.J. James, 2005. Congenital heart defects and abnormal maternal biomarkers of methionine and homocysteine metabolism. Am. J. Clin. Nutr., 81: 147-153.
42. Packer, B.R., M. Yeager, L. Burdett, R. Welch, M. Beerman, L. Qi, H. Sicotte, B. Staats, M. Acharya, A. Crenshaw, A. Eckert, V. Puri, D.S. Gerhard and S.J. Chanock, 2006. SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes. Nucleic Acids Res., 34: D617-D621.
43. Cleves, M.A., 1999. Hardy-Weinberg equilibrium tests and allele frequency estimation. STATA Technical Bull., 48: 34-37.
44. Montenegro, M.F., F. Barbosa Jr., V.C. Sandrim, R.F. Gerlach and J.E. Tanus-Santos, 2006. Ethnicity affects the distribution of deltaaminolevulinic acid dehydratase (ALAD) genetic variants. Clin. Chim. Acta, 367: 192-195.
45. Lanphear, B.P., R. Hornung, J. Khoury, K. Yolton, P. Baghurst, D.C. Bellinger, R.L. Canfield, K.N. Dietrich, R. Bornschein, T. Greene, S.J. Rothenberg, H.L. Needleman, L. Schnaas, G. Wasserman, J. Graziano, and R. Roberts, 2005. Low-level environmental lead exposure and children's intellectual function: An international pooled analysis. Environ. Health Perspect., 113: 894-899.
46. Canfield, R.L., C.R. Henderson Jr., D.A. Cory-Slechta, C. Cox, T.A. Jusko and B.P. Lanphear, 2003. Intellectual impairment in children with blood lead concentrations below 10 microg per deciliter. N. Engl. J. Med., 348: 1517-1526.
47. Hu, H., M.M. Tellez-Rojo, D. Bellinger, D. Smith, A.S. Ettinger, H. Lamadrid-Figueroa, J. Schwartz, L. Schnaas, A. Mercado-Garcia and M. Hernandez-Avila, 2006. Fetal lead exposure at each stage of pregnancy as a predictor of infant mental development. Environ. Health Perspect., 114: 1730-1735.
48. Tellez-Rojo, M.M., D.C. Bellinger, C. Arroyo-Quiroz, H. Lamadrid-Figueroa, A. Mercado-Garcia, L. Schnaas-Arrieta, R.O. Wright, M. Hernandez-Avila and H. Hu, 2006. Longitudinal associations between blood lead concentrations lower than 10 microg/dL and neurobehavioral development in environmentally exposed children in Mexico City. Pediatr., 118: e323-e330.
49. Rice, D. and S. Barone Jr., 2000. Critical periods of vulnerability for the developing nervous system: Evidence from humans and animal models. Environ. Health Perspect., 108: 511-533.
50. Garcia-Fernandez, A.J., A.E. Bayoumi, Y. Perez-Pertejo, M. Motas, R.M. Reguera, C. Ordonez, R. Balana-Fouce and D. Ordonez, 2002. Alterations of the glutathione-redox balance induced by metals in CHO-K1 cells. Comp Biochem. Physiol C. Toxicol. Pharmacol., 132: 365-373.
51. Stohs, S.J. and D. Bagchi, 1995. Oxidative mechanisms in the toxicity of metal ions. Free Radic. Biol. Med., 18: 321-336.
52. Wetmur, J.G., G. Lehnert and R.J. Desnick, 1991. The delta- aminolevulinate dehydratase polymorphism: Higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes. Environ. Res., 56: 109-119.
53. Cohen, D.J., R. Paul, G.M. Anderson and D. F. Harcherik, 1982. Blood lead in autistic children. Lancet, 2: 94-95.
54. Smith, C.M., X. Wang, H. Hu and K.T. Kelsey, 1995. A polymorphism in the delta-aminolevulinic acid dehydratase gene may modify the pharmacokinetics and toxicity of lead. Environ. Health Perspect., 103: 248-253.
55. Secchi, G.C., L. Erba and G. Cambiaghi, 1974. Delta-aminolevulinic acid dehydratase activity of erythrocytes and liver tissue in man: Relationship to lead exposure. Arch. Environ. Health, 28: 130-132.
56. James, S.J., W. Slikker III, S. Melnyk, E. New, M. Pogribna and S. Jernigan, 2005. Thimerosal neurotoxicity is associated with glutathione depletion: protection with glutathione precursors. Neurotoxicology, 26: 1-8.
57. Ono, H.A. Sakamoto and N. Sakura, 2001. Plasma total glutathione concentrations in healthy pediatric and adult subjects. Clin. Chim. Acta, 312: 227-229.
58. Costa, L.G., W.F. Li, R.J. Richter, D.M. Shih, A. Lusis and C.E. Furlong, 1999. The role of paraoxonase (PON1) in the detoxication of organophosphates and its human polymorphism. Chem. Biol. Interact., 119-120: 429-438.
59. Pasca, S.P., B. Nemes, L. Vlase, C.E. Gagyi, E. Dronca, A.C. Miu and M. Dronca, 2006. High levels of homocysteine and low serum paraoxonase 1 arylesterase activity in children with autism. Life Sci., 78: 2244-2248.
60. Chamary, J.V., J.L. Parmley and L.D. Hurst, 2006. Hearing silence: Non-neutral evolution at synonymous sites in mammals. Nat. Rev. Genet., 7: 98-108.