Infant C677T MTHFR polymorphism and severe mental retardation
Gary M Shaw1, Laura Jelliffe-Pawlowski, Verne Nelson
1California Birth Defects Monitoring Program, Berkeley, California 94710, USA. gsh@cbdmp.org
Infants with the MTHFR gene TT genotype showed no increased risk of severe mental retardation overall. However, Hispanic children with TT or CT genotypes had a higher risk, suggesting a potential link to folate metabolism.
Area of Science:
- Genetics and Developmental Biology
- Neuroscience
- Public Health
Background:
- Investigated the association between MTHFR gene polymorphisms and severe mental retardation in infants.
- Focused on the homozygous TT genotype of the MTHFR C677T gene variant.
Purpose of the Study:
- To determine if infants with the MTHFR gene TT genotype have an increased risk of severe mental retardation.
- To explore potential ethnic differences in this association.
Main Methods:
- Case-control study comparing 100 children with severe mental retardation to 743 control infants.
- DNA analysis from newborn screening filter papers for MTHFR C677T genotypes (TT, CT, CC).
Main Results:
- No significant overall difference in TT or CT genotypes between cases and controls.
- Elevated odds ratios (ORs) for TT (1.9) and CT (2.6) genotypes observed in Hispanic children.
- Results remained consistent after excluding cases with structural birth defects.
Conclusions:
- Folate metabolism is crucial for understanding birth defect etiologies.
- Further research into folate, DNA methylation, and mental retardation is warranted.
- The MTHFR gene may play a role in severe mental retardation, particularly in specific ethnic groups.
More Related Videos
06:21Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
Published on: May 10, 2024
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Inborn Errors of Metabolism
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic Lingo
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
