Blood biomarkers of methylation in Down syndrome and metabolic simulations using a mathematical model

Molecular Nutrition and Food Research

Volumn 56, Issue 10, 2012, Pages 1582-1589

  Obeid, Rima ^a   Hartmuth, Kathrin ^a   Herrmann, Wolfgang ^a   Gortner, Ludwig ^a   Rohrer, Tilman R ^a   Geisel, Jürgen ^a   Reed, Michael C ^b   Nijhout, H Frederik ^b  

^a SAARLAND UNIVERSITY   (Germany)

^b DUKE UNIVERSITY   (United States)

Author keywords

Betaine; Choline; Down syndrome; Homocysteine; Methylation

Indexed keywords

BETAINE; BIOLOGICAL MARKER; CHOLINE; CYSTATHIONINE; CYSTEINE; DIMETHYLGLYCINE; DRUG DERIVATIVE; GLUTATHIONE; METHIONINE; S ADENOSYLHOMOCYSTEINE; S ADENOSYLMETHIONINE; SARCOSINE;

ADOLESCENT; ADULT; ARTICLE; BLOOD; CASE CONTROL STUDY; CHILD; DOWN SYNDROME; FEMALE; HUMAN; INFANT; MALE; METHYLATION; PRESCHOOL CHILD; THEORETICAL MODEL;

ADOLESCENT; ADULT; BETAINE; BIOLOGICAL MARKERS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHOLINE; CYSTATHIONINE; CYSTEINE; DOWN SYNDROME; FEMALE; GLUTATHIONE; HUMANS; INFANT; MALE; METHIONINE; METHYLATION; MODELS, THEORETICAL; S-ADENOSYLHOMOCYSTEINE; S-ADENOSYLMETHIONINE; SARCOSINE; YOUNG ADULT;

EID: 84867066239     PISSN: 16134125     EISSN: 16134133     Source Type: Journal    
DOI: 10.1002/mnfr.201200162     Document Type: Article

References (47)

1. Mehta, P. D., Capone, G., Jewell, A., Freedland, R. L., Increased amyloid beta protein levels in children and adolescents with Down syndrome. J. Neurol. Sci. 2007, 254, 22-27.
2. Mehta, P. D., Dalton, A. J., Mehta, S. P., Kim, K. S. et al., Increased plasma amyloid beta protein 1-42 levels in Down syndrome. Neurosci. Lett. 1998, 241, 13-16.
3. Mann, D. M., The pathological association between Down syndrome and Alzheimer disease. Mech. Ageing Dev. 1988, 43, 99-136.
4. Head, E., Azizeh, B. Y., Lott, I. T., Tenner, A. J. et al., Complement association with neurons and beta-amyloid deposition in the brains of aged individuals with Down Syndrome. Neurobiol. Dis. 2001, 8, 252-265.
5. Mann, D. M., Esiri, M. M., The pattern of acquisition of plaques and tangles in the brains of patients under 50 years of age with Down's syndrome. J. Neurol. Sci. 1989, 89, 169-179.
6. Wald, D. S., Kasturiratne, A., Simmonds, M., Serum homocysteine and dementia: meta-analysis of eight cohort studies including 8669 participants. Alzheimers Dement. 2011, 7, 412-417.
7. Hooshmand, B., Solomon, A., Kareholt, I., Leiviska, J. et al., Homocysteine and holotranscobalamin and the risk of Alzheimer disease: a longitudinal study. Neurology 2010, 75, 1408-1414.
8. Galletti, P., De Bonis, M. L., Sorrentino, A., Raimo, M. et al., Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndrome. FEBS J. 2007, 274, 5263-5277.
9. Obeid, R., Herrmann, W., Mechanisms of homocysteine neurotoxicity in neurodegenerative diseases with special reference to dementia. FEBS Lett. 2006, 580, 2994-3005.
10. Fuso, A., Nicolia, V., Pasqualato, A., Fiorenza, M. T. et al., Changes in Presenilin 1 gene methylation pattern in diet-induced B vitamin deficiency. Neurobiol. Aging 2011, 32, 187-199.
11. Fuso, A., Nicolia, V., Cavallaro, R. A., Ricceri, L. et al., B-vitamin deprivation induces hyperhomocysteinemia and brain S-adenosylhomocysteine, depletes brain S-adenosylmethionine, and enhances PS1 and BACE expression and amyloid-beta deposition in mice. Mol. Cell. Neurosci. 2008, 37, 731-746.
12. Fuso, A., Seminara, L., Cavallaro, R. A., D'Anselmi, F. et al., S-adenosylmethionine/homocysteine cycle alterations modify DNA methylation status with consequent deregulation of PS1 and BACE and beta-amyloid production. Mol. Cell Neurosci. 2005, 28, 195-204.
13. Tangney, C. C., Aggarwal, N. T., Li, H., Wilson, R. S. et al., Vitamin B12, cognition, and brain MRI measures: a cross-sectional examination. Neurology 2011, 77, 1276-1282.
14. de Jager, C. A., Oulhaj, A., Jacoby, R., Refsum, H. et al., Cognitive and clinical outcomes of homocysteine-lowering B-vitamin treatment in mild cognitive impairment: a randomized controlled trial. Int. J. Geriatr. Psychiatry 2012, 27, 592-600.
15. Chadefaux, B., Rethore, M. O., Raoul, O., Ceballos, I. et al., Cystathionine beta synthase: gene dosage effect in trisomy 21. Biochem. Biophys. Res. Commun. 1985, 128, 40-44.
16. Pogribna, M., Melnyk, S., Pogribny, I., Chango, A. et al., Homocysteine metabolism in children with Down syndrome: in vitro modulation. Am. J. Hum. Genet. 2001, 69, 88-95.
17. Obermann-Borst, S. A., van Driel, L. M., Helbing, W. A., De, J. R. et al., Congenital heart defects and biomarkers of methylation in children: a case-control study. Eur. J. Clin. Invest. 2011, 41, 143-150.
18. Patterson, D., Folate metabolism and the risk of Down syndrome. Downs Syndr. Res. Pract. 2008, 12, 93-97.
19. Aimi, J., Qiu, H., Williams, J., Zalkin, H. et al., De novo purine nucleotide biosynthesis: cloning of human and avian cDNAs encoding the trifunctional glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase by functional complementation in E. coli. Nucleic Acids Res. 1990, 18, 6665-6672.
20. Glenn, M. J., Gibson, E. M., Kirby, E. D., Mellott, T. J. et al., Prenatal choline availability modulates hippocampal neurogenesis and neurogenic responses to enriching experiences in adult female rats. Eur. J. Neurosci. 2007, 25, 2473-2482.
21. Glenn, M. J., Kirby, E. D., Gibson, E. M., Wong-Goodrich, S. J. et al., Age-related declines in exploratory behavior and markers of hippocampal plasticity are attenuated by prenatal choline supplementation in rats. Brain. Res. 2008, 1237, 110-123.
22. Guseva, M. V., Hopkins, D. M., Scheff, S. W., Pauly, J. R., Dietary choline supplementation improves behavioral, histological, and neurochemical outcomes in a rat model of traumatic brain injury. J. Neurotrauma 2008, 25, 975-983.
23. Zeisel, S. H., da Costa, K. A., Choline: an essential nutrient for public health. Nutr. Rev. 2009, 67, 615-623.
24. Sanders, L. M., Zeisel, S. H., Choline: dietary requirements and role in brain development. Nutr. Today 2007, 42, 181-186.
25. Pagano, G., Castello, G., Oxidative stress and mitochondrial dysfunction in Down syndrome. Adv. Exp. Med. Biol. 2012, 724, 291-299.
26. Banerjee, R., Zou, C. G., Redox regulation and reaction mechanism of human cystathionine-beta-synthase: a PLP-dependent hemesensor protein. Arch. Biochem. Biophys. 2005, 433, 144-156.
27. Maclean, K. N., Janosik, M., Kraus, E., Kozich, V. et al., Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisiae. J. Cell. Physiol. 2002, 192, 81-92.
28. Zou, C. G., Banerjee, R., Homocysteine and redox signaling. Antioxid. Redox Signal 2005, 7, 547-559.
29. Kirsch, S. H., Knapp, J. P., Geisel, J., Herrmann, W. et al., Simultaneous quantification of S-adenosyl methionine and S-adenosyl homocysteine in human plasma by stable-isotope dilution ultra performance liquid chromatography tandem mass spectrometry. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 2009, 877, 3865-3870.
30. Kirsch, S. H., Herrmann, W., Rabagny, Y., Obeid, R., Quantification of acetylcholine, choline, betaine, and dimethylglycine in human plasma and urine using stable-isotope dilution ultra performance liquid chromatography-tandem mass spectrometry. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 2010, 878, 3338-3344.
31. Stabler, S. P., Lindenbaum, J., Savage, D. G., Allen, R. H., Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency. Blood 1993, 81, 3404-3413.
32. Allen, R. H., Stabler, S. P., Savage, D. G., Lindenbaum, J., Metabolic abnormalities in cobalamin (vitamin B12) and folate deficiency 1. FASEB J. 1993, 7, 1344-1353.
33. Antoniades, C., Shirodaria, C., Leeson, P., Baarholm, O. A. et al., MTHFR 677 C>T polymorphism reveals functional importance for 5-methyltetrahydrofolate, not homocysteine, in regulation of vascular redox state and endothelial function in human atherosclerosis. Circulation 2009, 119, 2507-2515.
34. Reed, M. C., Thomas, R. L., Pavisic, J., James, S. J. et al., A mathematical model of glutathione metabolism. Theor. Biol. Med. Model. 2008, 5, 8
35. Perluigi, M., Butterfield, D. A., Oxidative stress and Down syndrome: a route toward Alzheimer-like dementia. Curr. Gerontol. Geriatr. Res. 2012, 2012, 724904
36. Gulati, S., Chen, Z., Brody, L. C., Rosenblatt, D. S. et al., Defects in auxiliary redox proteins lead to functional methionine synthase deficiency. J Biol. Chem. 1997, 272, 19171-19175.
37. Infantino, V., Castegna, A., Iacobazzi, F., Spera, I. et al., Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome. Mol. Genet. Metab. 2011, 102, 378-382
38. Lott, I. T., Doran, E., Nguyen, V. Q., Tournay, A. et al., Down syndrome and dementia: a randomized, controlled trial of antioxidant supplementation. Am. J. Med. Genet. A 2011, 155A, 1939-1948.
39. Blehaut, H., Mircher, C., Ravel, A., Conte, M. et al., Effect of leucovorin (folinic acid) on the developmental quotient of children with Down's syndrome (trisomy 21) and influence of thyroid status. PLoS One 2010, 5, e8394.
40. Ellis, J. M., Tan, H. K., Gilbert, R. E., Muller, D. P. et al., Supplementation with antioxidants and folinic acid for children with Down's syndrome: randomised controlled trial. Br. Med. J. 2008, 336, 594-597.
41. Bird, L. M., Tan, W. H., Bacino, C. A., Peters, S. U. et al., A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am. J. Med. Genet. A 2011, 155A, 2956-2963.
42. James, S. J., Melnyk, S., Fuchs, G., Reid, T. et al., Efficacy of methylcobalamin and folinic acid treatment on glutathione redox status in children with autism. Am. J. Clin. Nutr. 2009, 89, 425-430.
43. Zeisel, S. H., Choline: an important nutrient in brain development, liver function and carcinogenesis. J. Am. Coll. Nutr. 1992, 11, 473-481.
44. da Costa, K. A., Badea, M., Fischer, L. M., Zeisel, S. H., Elevated serum creatine phosphokinase in choline-deficient humans: mechanistic studies in C2C12 mouse myoblasts. Am. J. Clin. Nutr. 2004, 80, 163-170.
45. Moon, J., Chen, M., Gandhy, S. U., Strawderman, M. et al., Perinatal choline supplementation improves cognitive functioning and emotion regulation in the Ts65Dn mouse model of Down syndrome. Behav. Neurosci. 2010, 124, 346-361.
46. Monk, B. R., Leslie, F. M., Thomas, J. D., The effects of perinatal choline supplementation on hippocampal cholinergic development in rats exposed to alcohol during the brain growth spurt. Hippocampus. 2012, 22, 1750-1757.
47. Aylward, E. H., Li, Q., Honeycutt, N. A., Warren, A. C. et al., MRI volumes of the hippocampus and amygdala in adults with Down's syndrome with and without dementia. Am. J. Psychiatry 1999, 156, 564-568.