Importance of gene variants and co-factors of folate metabolic pathway in the etiology of idiopathic intellectual disability

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 = 2...

Full description

Saved in:
Bibliographic Details
Published in:Nutritional neuroscience 2011-09, Vol.14 (5), p.202-209
Main Authors: Dutta, Samikshan, Shaw, Jyoti, Chatterjee, Arpita, Sarkar, Kanyakumarika, Usha, Rajamma, Chatterjee, Anindita, Sinha, Swagata, Mukhopadhyay, Kanchan
Format: Article
Language:English
Subjects:
Adolescent
Adult
Case-Control Studies
Child
Child, Preschool
Epistasis, Genetic - physiology
Family Health
Female
Ferredoxin-NADP Reductase - genetics
Ferredoxin-NADP Reductase - metabolism
Folate
Folic Acid - metabolism
Genetic Variation
Humans
Intellectual Disability - etiology
Intellectual Disability - genetics
Intellectual Disability - metabolism
Male
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Methylenetetrahydrofolate Reductase (NADPH2) - metabolism
MTR
MTRR
Polymorphism, Restriction Fragment Length
Tetrahydrofolate Dehydrogenase - genetics
Tetrahydrofolate Dehydrogenase - metabolism
Vitamin B 6 - metabolism
Vitamin B6
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1028-415X
1476-8305
DOI:10.1179/1476830511Y.0000000016