HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome

Hum Mol Genet. 1996 Oct;5(10):1607-10. doi: 10.1093/hmg/5.10.1607.

Abstract

Complete hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency in humans results in the Lesch-Nyhan syndrome which is characterized, among other features, by compulsive self-injurious behavior. HPRT-deficient mice generated using mouse embryonic stem cells exhibit none of the behavioral symptoms associated with the Lesch-Nyhan syndrome. Administration of drugs that inhibit adenine phosphoribosyltransferase (APRT) in HPRT-deficient mice has produced the suggestion that deficiency of APRT in combination with HPRT-deficiency in mice may lead to self-mutilation behavior [C.L. Wu and D.W. Melton (1993) Nature Genet. 3, 235-240]. To test this proposition, we bred HPRT-APRT-deficient mice. Although the doubly-deficient mice excrete adenine and its highly insoluble derivative, 2,8-dihydroxyadenine, which are also associated with human APRT deficiency, additional abnormalities or any self-injurious behavior were not detected. Thus, APRT-HPRT-deficient mice, which are devoid of any purine salvage pathways, show no novel phenotype and are not a model for the behavioral abnormalities associated with the Lesch-Nyhan syndrome as previously suggested.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenine Phosphoribosyltransferase / deficiency*
  • Animals
  • Behavior, Animal
  • Disease Models, Animal*
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / deficiency*
  • Lesch-Nyhan Syndrome*
  • Mice

Substances

  • Adenine Phosphoribosyltransferase
  • Hypoxanthine Phosphoribosyltransferase