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Methylenetetrahydrofolate reductase, common polymorphisms, and relation to disease
Philip Thomas1, Michael Fenech
1CSIRO Human Nutrition, Adelaide BC, Adelaide, South Australia 5000.
Vitamins and Hormones
|September 23, 2008
Summary
Folate is essential for DNA synthesis and repair. MTHFR gene variations impact folate metabolism, influencing cancer risk and conditions like hyperhomocysteinemia.
Area of Science:
- Biochemistry
- Genetics
- Molecular Biology
Background:
- Folate is crucial for genomic stability, DNA synthesis, and methylation patterns.
- Low folate levels can lead to uracil incorporation into DNA, causing strand breaks and micronuclei.
- Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism.
Purpose of the Study:
- To explore the role of MTHFR in folate metabolism.
- To investigate the clinical implications of MTHFR polymorphisms.
Main Methods:
- Review of MTHFR enzyme function and its role in folate pathways.
- Analysis of associations between MTHFR gene polymorphisms (C677T, A1298C) and clinical outcomes.
Main Results:
- MTHFR polymorphisms reduce enzyme activity, affecting folate metabolism.
- These polymorphisms are linked to altered risks for certain cancers (leukemia, lung, colorectal).
- MTHFR variations are associated with hyperhomocysteinemia, a risk factor for neural tube defects and cardiovascular disease.
Conclusions:
- MTHFR gene variations significantly influence folate metabolism.
- Understanding MTHFR's role is important for assessing risks of various diseases.
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