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What is MTHFR?

Published on Nov 18, 2015

Pathogenesis and mechanisms of MTHFR polymorphism.

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1.

What is MTHFR?

methyltetrahydrofolate reductase
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2.

MTHFR polymorphism

  • substitution mutation
  • thermolabile enzyme
  • reduced efficiency
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3.

homocysteine + folate metabolism

4.

Take-aways

  • elevated HCY
  • impaired folate metabolism
  • methylation vs. DNA synthesis
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5.

References

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Emily Cerda