Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults.

@article{Skibola1999PolymorphismsIT,
  title={Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults.},
  author={Christine F. Skibola and Martyn Thomas Smith and Eleanor A. Kane and Eve Roman and Sara J. Rollinson and Raymond A. Cartwright and Gareth J Morgan},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1999},
  volume={96 22},
  pages={
          12810-5
        }
}
Reduction of 5,10-methylenetetrahydrofolate (methyleneTHF), a donor for methylating dUMP to dTMP in DNA synthesis, to 5-methyltetrahydrofolate (methylTHF), the primary methyl donor for methionine synthesis, is catalyzed by 5,10-methylenetetrahydrofolate reductase (MTHFR). A common 677 C --> T polymorphism in the MTHFR gene results in thermolability and reduced MTHFR activity that decreases the pool of methylTHF and increases the pool of methyleneTHF. Recently, another polymorphism in MTHFR… CONTINUE READING

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