A focus on homocysteine in autism

• Autorzy: Kaluzna-Czaplinska J. , Zurawicz E. , Michalska M. , Rynkowski J.
• Języki publikacji: EN

Abstrakty

EN

 Homocysteine is an amino acid, which plays several important roles in human physiology. A wide range of disorders, including neuropsychiatric disorders and autism, are associated with increased homocysteine levels in biological fluids. Various B vitamins: B6 (pyridoxine), B12 (cobalamin), and B9 (folic acid) are required as co-factors by the enzymes involved in homocysteine metabolism. Therefore, monitoring of homocysteine levels in body fluids of autistic children can provide information on genetic and physiological diseases, improper lifestyle (including dietary habits), as well as a variety of pathological conditions. This review presents information on homocysteine metabolism, determination of homocysteine in biological fluids, and shows abnormalities in the levels of homocysteine in the body fluids of autistic children.

Słowa kluczowe

EN

homocysteine level; amino acid; human physiology; autism; child; human disease; vitamin; human nutrition; food supplementation; human metabolism

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2013
• Tom: 60
• Numer: 2
• Opis fizyczny: p.137-142,fig.,ref.

Twórcy

autor

Kaluzna-Czaplinska J.

• Department of Chemistry, Institute of General and Ecological Chemistry, Technical University of Lodz, Lodz, Poland

autor

Zurawicz E.

• Department of Chemistry, Institute of General and Ecological Chemistry, Technical University of Lodz, Lodz, Poland

autor

Michalska M.

• Department of Chemistry, Institute of General and Ecological Chemistry, Technical University of Lodz, Lodz, Poland

autor

Rynkowski J.

• Department of Chemistry, Institute of General and Ecological Chemistry, Technical University of Lodz, Lodz, Poland

Bibliografia

• Adams JB, Holloway C (2004) Pilot study of a moderate dose multivitamin/mineral supplement for children with autistic spectrum disorder. J Altern Complement Med 10: 1033-1039. 
• Adams M, Lucock M, Stuart J, Fardell S, Baker K, Ng X (2007) Preliminary evidence for involvement of folate gene polymorphism 19bp deletion-DHFR in occurrence of autism. Neurosci Lett 422: 24-29. 
• Ali A, Waly MI, Al-Farsi YM, Essa MM, Al-Sharbati MM, Deth RC (2011) Hyperhomocysteinemia among Omani autistic children: a case-control study. Acta Biochim Pol 58: 547-551. 
• Auer J, Berent R, Eber B (2001) Homocysteine and risk of cardiovascular disease. J Clin Basic Cardiol 4: 261-264.
• Bald E, Kaniowska E, Chwatko G, Glowacki R (2000) Liquid chromatographic assessment of total and protein-bound homocysteine in human plasma. Talanta 50: 1233-1243. 
• Bjelland I, Tell GS, Vollset SE, Refsum H, Ueland PM (2003) Folate, vitamin B12, homocysteine, and the MTHFR 677CT polymorphism in anxiety and depression: the Hordaland Homocysteine Study. Arch Gen Psychiatry 60: 618-626. 
• Bogers RP, Dagnelie PC, Bast A, van Leeuwen M, van Klaveren JD, van den Brandt PA (2007) Effect of increased vegetable and fruit consumption on plasma folate and homocysteine concentrations. Nutrition 23: 97-102. 
• Bongiovanni B, Feinerman J (2003) Amino Acid Profiling: clinical guidelines for determination of preferred specimen choice. Townsend Letter for Doctors and Patients 245: 38-42.
• Bonig H, Daublin G, Schwahn B, Wendel U (2003) Psychotic symptoms in severe MTHFR deficiency and their successful treatment with betaine. Eur J Pediatr 162: 200-201. 
• Boris M, Goldblatt A, Galanko J, James SJ (2004) Association of MTHFR gene variants with autism. J Am Phys Surg 9: 106-108.
• Brosnan JT, Jacobs RL, Stead LM, Brosnan ME (2004) Methylation demand: a key determinant of homocysteine metabolism. Acta Biochim Pol 51: 405-413. 
• Riegel B, Du Vigneaud V (1935) The isolation of homocysteine and its conversion to a thiolactone. J Biol Chem 112: 149-154.
• Carson NA, Neill DW (1962) Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch Dis Child 37: 505-513. 
• Caussé E, Siri N, Bellet H, Champagne S, Bayle C, Valdiguié P, Salvayre R, Couderc F (1999) Plasma homocysteine determined by capillary electrophoresis with laser-induced fluorescence detection. Clin Chem 45: 412-414. 
• Chauhan A, Chauhan V (2006) Oxidative stress in autism. Pathophysiology 13: 171-181.  
• Chwatko G, Boers GH, Strauss KA, Shih DM, Jakubowski H (2007) Mutations in methylenetetrahydrofolate reductase or cystathionine beta-syntase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice. FASEB J 21: 1707-1713. 
• Duthie SJ, Whalley LJ, Collins AR, Leaper S, Berger K, Deary IJ (2002) Homocysteine, B vitamin status, and cognitive function in the elderly. Am J Clin Nutr 75: 908-913.  
• Esmon CT, Owen WG (1981) Identification of an endothelial cell cofactor for thrombin-catalyzed activation of pro-tein C. Proc Natl Acad Sci USA 78: 2249-2252. 
• Finglas PM, de Meer K, Molloy A, Verhoef P, Pietrzik K, Powers HJ, van der Straeten D, Jägerstad M, Varela-Moreiras G, van Vliet T, Havenaar R, Buttriss J, Wright AJ (2006) Research goals for folate and related B vitamin in Europe. Eur J Clin Nutr 60: 287-294.  
• Finkelstein JD (1998) The metabolism of homocysteine: pathways and regulation. Eur J Pediatr 157: S40-S44. 
• van der Gaag MS, Ubbink JB, Sillanaukee P, Nikkari S, Hendriks HF (2000) Effect of consumption of red wine, spirits, and beer on serum homocysteine. Lancet 355: 1522. 
• Gerritsen T, Vaughn JG, Waisman HA (1962) The identification of homocystine in the urine. Biochem Biophys Res Commun 9: 493-496. 
• Gerritsen T, Waisman HA (1964) Homocystinuria, an error in the metabolism of methionine. Pediatrics 33: 413-420. 
• Grubben MJ, Boers GH, Blom HJ, Broekhuizen R, de Jong R, van Rijt L, de Ruijter E, Swinkels DW, Nagengast FM, Katan MB (2000) Unfiltered coffee increases plasma homocysteine concentrations in healthy volunteers: a randomized trial 1-3. Am J Clin Nutr 71: 480-484. 
• Guilliams TG (2004) Homocysteine: a risk factor worth treating. The Standard 6: 1-8.
• Hague WM (2003) Homocysteine and pregnancy. Best Pract Res Clin Obstet Gynaecol 17: 459-446. 
• House JD, March SB, Ratnam S, Ives E, Brosnan JT, Friel JK (2000) Folate and vitamin B12 status of women in Newfoundland at their first prenatal visit. CMAJ 162: 1557-1559.  
• Jacobsen DW (1998) Homocysteine and vitamins in cardiovascular disease. Clin Chem 44: 1833-1843. 
• Hustad S, Midttun O, Schneede J, Vollset SE, Grotmol T, Ueland PM (2007) The methylenetetrahydrofolate reductase 677C→ T polymorphism as a modulator of a B vitamin network with major effects on homocysteine metabolism. Am J Hum Genet 80: 846-555. 
• Jakubowski H (1990) Proofreading in vivo: editing of homocysteine by methionyl-tRNA synthetase in Escherichia coli. Proc Natl Acad Sci USA 87: 4504-4508. 
• Jakubowski H, Ambrosius WT, Pratt JH (2001) Genetic determinants of homocysteine thiolactonase activity in humans: implications for atherosclerosis. FEBS Lett 491: 35-39.  
• Jakubowski H, Perla-Kaján J, Finnell RH, Cabrera RM, Wang H, Gupta S, Kruger WD, Kraus JP, Shih DM (2009) Genetic or nutritional disorders in homocysteine or folate metabolism increase protein N-homocysteinylation in mice. FASEB J 23: 1721-1727.  
• Jakubowski H, Głowacki R (2011) Chemical biology of homocysteine thiolactone and related metabolites. Adv Clin Chem 55: 81-103. 
• James SJ, Cutler P, Melnyk S, Jernigan S, Janak L, Gaylor DW, Neubrander JA (2004) Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism. Am J Clin Nutr 80: 1611-1617. 
• James SJ, Melnyk S, Jernigan S, Cleves MA, Halsted CH, Wong DH, Cutler P, Bock K, Boris M, Bradstreet JJ, Baker SM, Gaylor DW (2006) Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism. Am J Med Genet B Neuropsychiatr Genet 141: 947-956. 
• James SJ, Melnyk S, Jernigan S, Pavliv O, Trusty T, Lehman S, Seidel L, Gaylor DW, Cleves MA (2010) A functional polymorphism in the reduced folate carrier gene and DANN hypomethylation in mothers of children with autism. Am J Med Genet B Neuropsychiatr Genet 153B: 1209-1220. 
• Kałużna-Czaplińska J, Michalska M, Rynkowski J (2011a) Homocysteine level in urine of autistic and healthy children. Acta Biochim Pol 58: 31-34. 
• Kałużna-Czaplińska J, Michalska M, Rynkowski J (2011b) Vitamin supplementation reduces the levels of homocysteine in the urine of autistic children. Nutr Res 31: 318-321.  
• Kałużna-Czaplińska J, Michalska M, Socha E, Błaszczyk S, Rozetti-Szymańska A, Rynkowski J (2009) Nutritional deficiencies in children for example of autistic children. Nowa Pediatria 4: 94-100 (in Polish).
• Kang SS, Wong PW, Malinow MR (1992) Hyperhomocysteinemia as a risk factor for occlusive vascular disease. Annu Rev Nutr 12: 279-298. 
• Kawashima A, Madarame T, Koike H, Komatsu Y, Wise JA (2007) Four week supplementation with mixed fruit and vegetable juice concentrates increased protective serum antioxidants and folate and decreased plasma homocysteine in Japanese subjects. Asia Pac J Clin Nutr 16: 411-421. 
• Kruman II, Culmsee C, Chan SL, Kruman Y, Guo Z, Penix L, Mattson MP (2000) Homocysteine elicits a DNA damage response in neurons that promotes apoptosis and hypersensitivity to excitotoxicity. J Neurosci 20: 6920-6926. 
• Lee M, Strahlendorf HK, Strahlendorf JC (1988) Differential effects of N-methyl d-aspartic acid and l-homocysteic acid on cerebellar Purkinje neurons. Brain Res 456: 104-112. 
• Lowe TL, Cohen DJ, Miller S, Young JG (1981) Folic acid and B12 in autism and neuropsychiatric disturbances of childhood. J Am Acad Child Psychiatry 20: 104-111.  
• Lipton SA, Kim WK, Choi YB, Kumar S, D'Emilia DM, Rayudu PV, Arnelle DR, Stamler JS (1997) Neurotoxicity associated with dual actions of homocysteine at the N-methyl-D-aspartate receptor. Proc Natl Acad Sci 94: 5923-5928. 
• Lutz UC (2008) Alterations in homocysteine metabolism among alcohol dependent patients - clinical, pathobiochemical and genetic aspects. Curr Drug Abuse Rev 1: 47-55.  
• Malinowska J, Kolodziejczyk J, Olas B (2012) The disturbance of hemostasis induced by hyperhomocysteinemia; the role of antioxidants. Acta Biochim Pol 59: 185-194. 
• McCully KS (1969) Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. Am J Pathol 56: 111-128. 
• Manolescu BN, Oprea E, Farcasanu IC, Berteanu M, Cercasov C (2010) Homocysteine and vitamin therapy in stroke prevention and treatment: a review. Acta Biochim Pol 57: 467-477. 
• Mudd SH, Finkelstein JD, Irreverre F, Laster L (1964) Homocystinuria: An enzymatic defect. Science 143: 1443-1445. 
• Nakata Y, Katsuya T, Takami S, Sato N, Fu Y, Ishikawa K, Takiuchi S, Rakugi H, Miki T, Higaki J, Ogihara T (1998) Methylenetetrahydrofolate reductase gene polymorphism: relation to blood pressure and cerebrovascular disease. Am J Hypertens 11: 1019-1023.  
• Nekrassova O, Lawrence NS, Compton RG (2003) Analytical determination of homocysteine: a review. Talanta 60: 1085-1095. 
• Nelen WL (2001) Hyperhomocysteinaemia and human reproduction. Clin Chem Lab Med 39: 758-763. 
• Nilsson K, Gustafson L, Hultberg B (2002) Relation between plasma homocysteine and Alzheimer's disease. Dement Geriatr Cogn Disord 14: 7-12. 
• O'Callaghan P, Meleady R, Fitzgerald T, Graham I, European COMAC Group (2002) Smoking and plasma homocysteine. Eur Heart J 23: 1580-1586. 
• Paşca SP, Nemeş B, Vlase L, Gagyi CE, Dronca E, Miu AC, Dronca M (2006) High levels of homocysteine and low serumparaoxonase 1 arylesterase activity in children with autism. Life Sci 78: 2244-2248. 
• Paul C, Williams KE, Riegel K, Gibbons B (2007) Combining repeated taste exposure and escape prevention: an intervention for the treatment of extreme food selectivity. Appetite 49: 708-711. 
• Perła-Kajan J, Twardowski T, Jakubowski H (2007) Mechanisms of homocysteine toxicity in humans. Amino Acids 32: 561-572. 
• Perna AF, Capasso R, Lombardi C, Acanfora F, Satta E, Ingrosso D (2005) Hyperhomocysteinemia and macromolecule modifications in uremic patients. Clin Chem Lab Med 43: 1032-1038. 
• Pineles SL, Avery RA, Liu GT (2010) Vitamin B12 optic neuropathy in autism. Pediatrics 126: e967-e970. 
• Rafii M, Elango R, Courtney-Martin G, House JD, Fisher L, Pencharz PB (2007) High-throughput and simultaneous measurement of homocysteine and cysteine in human plasma and urine by liquid chromatography-electrospray tandem mass spectrometry. Anal Biochem 371: 71-81. 
• Ramaekers VT, Hausler M, Opladen T, Heimann G, Blau N (2002) Psychomotor retardation, spastic paraplegia, cerebellar ataxia, and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution. Neuropediatrics 33: 301-308. 
• Refsum H, Smith AD, Ueland PM, Nexo E, Clarke R, McPartlin J, Johnston C, Engbaek F, Schneede J, McPartlin C, Scott JM (2004) Facts and recommendations about total homocysteine determinations: an expert opinion. Clin Chem 50: 3-32. 
• Reinhardt D, Sigusch HH, Vogt SF, Farker K, Müller S, Hoffmann A (1998) Absence of association between a common mutation in the methylenetetrahydrofolate reductase gene and the risk of coronary artery disease. Eur J Clin Invest 28: 20-23. 
• Sawada S, Takada S, Yamamoto C (1982) Excitatory actions of homocysteic acid on hippocampal neurons. Brain Res 238: 282-285. 
• Sawuła W, Banecka-Majkutewicz Z, Kadziński L, Jakóbkiewicz-Banecka J, Wegrzyn G, Nyka W, Banecki B (2008) Improved HPLC method for total plasma homocysteine detection and quantification. Acta Biochim Pol 55: 119-125. 
• Sawuła W, Banecka-Majkutewicz Z, Kadziński L, Jakóbkiewicz-Banecka J, Wegrzyn G, Nyka W, Banecki B (2009) Homocysteine level and metabolism in ischemic stroke in the population of Northern Poland. Clin Biochem 42: 442-447. 
• Schmidt RJ, Hansen RL, Hartiala J, Allayee H, Schmidt LC, Tancredi DJ, Tassone F, Hertz-Picciotto I (2011) Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism. Epidemiology 22: 476-485. 
• Seshadri S, Beiser A, Selhub J, Jacques PF, Rosenberg IH, D'Agostino RB, Wilson PW, Wolf PA (2002) Plasma homocysteine as a risk factor for dementia and Alzheimer's disease. N Engl J Med 346: 476-483. 
• Shoveller AK, House JD, Brunton JA, Pencharz PB, Ball RO (2004) The balance of dietary sulfur amino acids and the route of feeding affect plasma homocysteine concentrations in neonatal piglets. J Nutr 134: 609-612. 
• Suh JH, Walsh WJ, McGinnis WR, Lewis A, Ames BN (2008) Altered sulfur amino acid metabolism in immune cells of children diagnosed with autism. Am J Biochem Biotech 4: 105-113.
• Thambyrajah J, Landray MJ, McGlynn FJ, Jones HJ, Wheeler DC, Townend JN (2000) Does folic acid decrease plasma homocysteine and improve endothelial function in patients with predialysis renal failure? Circulation 102: 871-875. 
• Verhoef P, Pasman WJ, Van Vliet T, Urgert R, Katan MB (2002) Contribution of caffeine to the homocysteine-raising effect of coffee: a randomized controlled trial in humans. Am J Clin Nutr 76: 1244-1248. 
• Waśkiewicz A, Sygnowska E, Broda G (2010) Dietary intake of vitamins B6, B12 and folate in relation to homocysteine serum concentration in the adult Polish population - WOBASZ Project. Kardiol Pol 68: 275-282 (in Polish). 
• Weisberg I, Tran P, Christensen B, Sibani S, Rozen R (1998) A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab 64: 169-172. 
• Williams KE, Gibbons BG, Schreck KA (2005) Comparing selective eaters with and without developmental disabilities. J Dev Phys Disabil 17: 299-309.
• Xia RR (2011) Effectiveness of nutritional supplements for reducing symptoms in autism- spectrum disorder: a case report. J Altern Complement Med 17: 271-274. 
• Xia W, Zhou Y, Sun C, Wang J, Wu L (2010) A preliminary study on nutritional status and intake in Chinese children with autism. Eur J Pediatr 169: 1201-1206. 
• Zinellu A, Sotgia S, Usai MF, Zinellu E, Posadino AM, Gaspa L, Chessa R, Pinna A, Carta F, Deiana L, Carru C (2007) Plasma methionine determination by capillary electrophoresis-UV assay: application on patients affected by retinal venous occlusive disease. Anal Biochem 363: 91-96.