Folate deficiency, mismatch repair-dependent apoptosis, and human disease

Guo Min Li, Steven R. Presnell, Liya Gu

Research output: Contribution to journalReview articlepeer-review

26 Scopus citations


The vitamin that is most commonly deficient in the American diet is folate. Severe folate deficiency in humans is known to cause megaloblastic anemia and developmental defects, and is associated with an increased incidence of several forms of human cancer. Although the exact mechanisms by which this vitamin deficiency may cause these diseases are not known at the present time, recent work has shown that folate deficiency also causes genomic instability and programmed cell death (or apoptosis). Additionally, it is known that the DNA mismatch repair pathway mediates folate deficiency-induced apoptosis. This review will first describe work suggesting that folate deficiency causes genomic instability and apoptosis, then discuss possible mechanisms by which the mismatch repair pathway could trigger folate deficiency-induced apoptosis, which has either protective or destructive effects on tissue.

Original languageEnglish (US)
Pages (from-to)568-575
Number of pages8
JournalJournal of Nutritional Biochemistry
Issue number10
StatePublished - Oct 1 2003


  • Apoptosis
  • Cancer
  • Folate deficiency
  • Genomic instability
  • Megaloblastic anemia
  • Mismatch repair

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Nutrition and Dietetics
  • Clinical Biochemistry


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