title: Importance of gene variants and co-factors of folate metabolic pathway in the etiology of idiopathic intellectual disability.
abstract: Different components of the folate metabolic cycle are crucial for maintaining integrity of DNA. The present study was aimed at exploring the role of some important constituents of the folate cycle in the etiology of idiopathic intellectual disability (IID). Nuclear families with IID  probands (n=226) and ethnically matched controls (n=181) were recruited for micronucleus, karyotype, genetic polymorphism (MTR rs1805087, MTRR rs1801394, and DHFR rs70991108), folate, vitamin B6, vitamin B12, and cysteine analysis. Significant difference  in genotype frequencies in IID probands and their parents were observed for rs1805087 (P=0.03, 0.02), rs1801394 (P=0.03, 0.001), and rs70991108 ((P=0.03, 0.02) as compared to controls. IID probands showed significantly higher micronucleus  frequency (P=0.01) and decreased vitamin B6 level (P=0.002). A strong correlation between rs1801394 'G' allele and micronucleus was also noticed. From the present investigation, a role of genetic polymorphisms and vitamin B6 levels could be  hypothesized in the etiology of IID.
authors: Manovikas Biomedical Research and Diagnostic Centre, E.M. Bypass, Kolkata, India.
authors: Samikshan
authors: S
authors: Dutta
authors: Jyoti
authors: J
authors: Shaw
authors: Arpita
authors: A
authors: Chatterjee
authors: Kanyakumarika
authors: K
authors: Sarkar
authors: Rajamma
authors: R
authors: Usha
authors: Anindita
authors: A
authors: Chatterjee
authors: Swagata
authors: S
authors: Sinha
authors: Kanchan
authors: K
authors: Mukhopadhyay
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004843:Epistasis, Genetic / Q000502:physiology; D005192:Family Health; D005260:Female; D005287:Ferredoxin-NADP Reductase / Q000235:genetics* / Q000378:metabolism; D005492:Folic Acid / Q000378:metabolism*; D014644:Genetic Variation; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000378:metabolism; D012150:Polymorphism, Restriction Fragment Length; D013762:Tetrahydrofolate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D025101:Vitamin B 6 / Q000378:metabolism; D055815:Young Adult
chemical_list: D025101:Vitamin B 6; D005492:Folic Acid; C111241:methionine synthase reductase; D005287:Ferredoxin-NADP Reductase; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013762:Tetrahydrofolate Dehydrogenase