Correlation between cystathionine beta synthase gene polymorphisms, plasma homocysteine and idiopathic mental retardation in Indian individuals from Kolkata

Neuroscience Letters

Volumn 453, Issue 3, 2009, Pages 214-218

  Dutta, Samikshan ^a   Chatterjee, Arpita ^a   Sinha, Swagata ^a   Chattopadhyay, Anindita ^a   Mukhopadhyay, Kanchan ^a  

^a Manovikas Biomedical Research and Diagnostic Centre   (India)

Author keywords

31 bp VNTR; CBS; Homocysteine; Mental retardation; T833C 844ins68

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; GENOMIC DNA; HOMOCYSTEINE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DNA POLYMORPHISM; ENZYME IMMUNOASSAY; EXON; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENOTYPE; HUMAN; INDIA; INTRON; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; NUCLEAR FAMILY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CYSTATHIONINE BETA-SYNTHASE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HOMOCYSTEINE; HUMANS; MALE; MENTAL RETARDATION; POLYMORPHISM, GENETIC; SEX FACTORS; YOUNG ADULT;

EID: 62249181518     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2009.02.040     Document Type: Article

References (31)

1. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. (2000), American Psychiatric Association, Washington, DC Text Revised (DSM-IV-TR)
2. Barboux S., Plomin R., and Whitehead A.S. Polymorphisms of genes controlling homocysteine/folate metabolism and cognitive function. Neuroreport 11 (2000) 1133-1136
3. Barrett J.C., Fry B., Maller J., and Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21 (2005) 263-265
4. Beyer K., Lao J.I., and Latorre P. Age at onset: an essential variable for the definition of genetic risk factors for sporadic Alzheimer's disease. Ann. NY Acad. Sci. 1057 (2005) 260-278
5. Bharat Raj J. AIISH norms on SFB with Indian children. J. AIISH 2 (1971) 34-39
6. Bleich S., Degner D., Sperling W., Bonsch D., Thurauf N., and Kornhuber J. Homocysteine as a neurotoxin in chronic alcoholism. Prog. Neuropsychopharmacol. Biol. Psychiatry 28 (2004) 453-464
7. Dawson P.A., Cox A.J., Emmerson B.T., Dudman N., Kraus J.P., and Gordon R.B. Characterization of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria. Eur. J. Hum. Genet. 5 (1997) 15-21
8. Dudbridge F. Pedigree disequilibrium tests for multilocus haplotypes. Genet. Epidemiol. 25 (2003) 115-221
9. Dutta S., Sinha S., Chattopadhyay A., Gangopadhyay P.K., Mukhopadhyay J., Singh M., and Mukhopadhyay K. Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children. Behav. Brain Funct. 1 (2005) 25
10. Dutta S., Sinha S., and Mukhopadhyay K. Analysis of cystathionine beta-synthase 31 bp variable number tandem repeats in mentally retarded patients. Psychiatr. Genet. 17 (2007) 243
11. Grieve A., Butcher S.P., and Griffiths R. Synaptosomal plasma membrane transport of excitatory sulphur amino acid transmitter candidates: kinetic characterisation and analysis of carrier specificity. J. Neurosci. Res. 32 (1992) 60-68
12. Ho P.I., Ashline D., Dhitavat S., Ortiz D., Collins S.C., Shea T.B., and Rogers E. Folate deprivation induces neurodegeneration: roles of oxidative stress and increased homocysteine. Neurobiol. Dis. 14 (2003) 32-42
13. Hu F.L., Gu Z., Kozich V., Kraus J.P., Ramesh V., and Shih V.E. Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Hum. Mol. Genet. 2 (1993) 1857-1860
14. Ipcioglu O.M., Ozcan O., Gultepe M., Ates A., Basoglu C., and Cakir E. Reduced urinary excretion of homocysteine could be the reason of elevated plasma homocysteine in patients with psychiatric illnesses. Clin. Biochem. 41 (2008) 831-835
15. Kim C.E., Gallagher P.M., Guttormsen A.B., Refsum H., Ueland P.M., Ose L., Folling I., Whitehead A.S., Tsai M.Y., and Kruger W.D. Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria. Hum. Mol. Genet. 6 (1997) 2213-2221
16. Kluijtmans L.A., Boers G.H., Stevens E.M., Renier W.O., Kraus J.P., Trijbels F.J., van den Heuvel L.P., and Blom H.J. Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. J. Clin. Invest. 98 (1996) 285-289
17. Kraus J.P., Janosik M., Kozich V., Mandell R., Shih V., Sperandeo M.P., Sebastio G., de Franchis R., Andria G., Kluijtmans L.A., Blom H., Boers G.H., Gordon R.B., Kamoun P., Tsai M.Y., Kruger W.D., Koch H.G., Ohura T., and Gaustadnes M. Cystathionine beta-synthase mutations in homocystinuria. Hum. Mutat. 13 (1999) 362-375
18. Lievers K.J.A., Kluijtmans L.A.J., Heil S.G., Boer G.H.J., Verhoef P., Van Oppenraay-Emmerzaal D., Den Heijer M., Trijbels F.J.M., and Blom H.J. A 31 bp VNTR in the cystathionine B synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels. Eur. J. Hum. Genet. 9 (2001) 583-589
19. Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res. 16 (1988) 1215
20. Mudd S.H., Levy H.L., and Kraus J.P. Disorders of transulfuration. In: Scriver C.R., Beaudet A.l., Sly W.S., Valle D., Childs B., Kinzler K.W., and Vogelstein B. (Eds). The Metabolic and Molecular Bases of Inherited Disease. 8th ed. (2001), McGraw-Hill, New York 2007-2056
21. Quinn C.T., Griener J.C., Bottiglieri T., Arning E., and Winick N.J. Effects of intraventricular methotrexate on folate, adenosine, and homocysteine metabolism in cerebrospinal fluid. J. Pediatr. Hematol. Oncol. 26 (2004) 386-388
22. Sham P.C., and Curtis D. An extended transmission/disequilibrium test (TDT) for multiallelic marker loci. Ann. Hum. Genet. 59 (1995) 323-336
23. Shan X., Dunbrack Jr. R.L., Christopher S.A., and Kruger W.D. Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis. Hum. Mol. Genet. 10 (2001) 635-643
24. Shao Y., Zhang C.G., and Cui J.H. Association of plasma homocysteine and cystathionine beta-synthase polymorphism with cerebral thrombosis. Di. Yi. Jun. Yi. Da. Xue. Xue. Bao. 25 (2005) 351-353
25. Terwilliger J.D., and Ott J. A haplotype-based "haplotype relative risk" approach to detecting allelic association. Hum. Hered. 42 (1992) 337-346
26. Tsai M.Y., Bignell M., Schwichtenberg K., and Hanson N. High prevalence of a mutation in the cystathionine β-synthase gene. Am. J. Hum. Genet. 59 (1996) 1262-1267
27. Tsai M.Y., Yang F., Bignell M., Aras O., and Hanson N.Q. Relation between plasma homocysteine concentration, the 844ins68 variant of the cystathionine beta-synthase gene, and pyridoxal-5′-phosphate concentration. Mol. Genet. Metab. 67 (1999) 352-356
28. Ueland P.M., Refsum H., Stabler S.P., Malinow M.R., Andersson A., and Allen R.H. Total homocysteine in plasma or serum: methods and clinical applications. Clin. Chem. 39 (1993) 1764-1779
29. Wechsler D. Wechsler Intelligence Scale for Children-Third Edition: Manual (1991), Psychological Corporation, San Antonio, TX
30. Wright C.B., Paik M.C., Brown T.R., Stabler S.P., Allen R.H., Sacco R.L., and DeCarli C. Total homocysteine is associated with white matter hyper intensity volume: the Northern Manhattan Study. Stroke 36 (2005) 1207-1211
31. Yang F., Hanson N.Q., Schwichtenberg K., and Tsai M.Y. Variable number tandem repeat in exon/intron border of the cystathionine beta-synthase gene: a single nucleotide substitution in the second repeat prevents multiple alternate splicing. Am. J. Med. Genet. 95 (2000) 385-390