Pyruvate kinase deficiency and malaria

N Engl J Med. 2008 Apr 24;358(17):1805-10. doi: 10.1056/NEJMoa072464. Epub 2008 Apr 16.

Abstract

Malaria that is caused by Plasmodium falciparum is a significant global health problem. Genetic characteristics of the host influence the severity of disease and the ultimate outcome of infection, and there is evidence of coevolution of the plasmodium parasite with its host. In humans, pyruvate kinase deficiency is the second most common erythrocyte enzyme disorder. Here, we show that pyruvate kinase deficiency provides protection against infection and replication of P. falciparum in human erythrocytes, raising the possibility that mutant pyruvate kinase alleles may confer a protective advantage against malaria in human populations in areas where the disease is endemic.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Erythrocytes / enzymology
  • Erythrocytes / parasitology*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Malaria, Falciparum / blood
  • Malaria, Falciparum / enzymology*
  • Malaria, Falciparum / genetics
  • Male
  • Mutation
  • Phagocytosis
  • Plasmodium falciparum*
  • Polymorphism, Single Nucleotide
  • Pyruvate Kinase / deficiency*
  • Pyruvate Kinase / genetics*

Substances

  • Pyruvate Kinase