Bone marrow transplantation does not ameliorate the neurologic symptoms in mice deficient in hypoxanthine guanine phosphoribosyl transferase (HPRT)

Metab Brain Dis. 1999 Mar;14(1):57-65. doi: 10.1023/a:1020661514514.

Abstract

The use of bone marrow transplantation (BMT) for the treatment of genetic diseases with neurologic involvement has yielded mixed results. We have employed a mouse model of Lesch-Nyhan disease (LND) to assess the efficacy of BMT in ameliorating the neurologic manifestations of the disease. Adult HPRT-deficient mice exhibit a measurable decrease in striatal dopamine levels and a hypersensitivity to amphetamine. Marrow-ablated adult HPRT-deficient mice were transplanted with marrow from congenic HPRT-expressing mice. BMT altered neither the neurochemical nor the behavioral phenotypes in either HPRT-positive or HPRT-deficient mice. Barring any important species differences, these results suggest that BMT in its present form may not be an effective therapy for Lesch-Nyhan syndrome.

MeSH terms

  • Animals
  • Behavior, Animal / drug effects
  • Behavior, Animal / physiology
  • Bone Marrow Transplantation*
  • Dextroamphetamine / pharmacology
  • Disease Models, Animal
  • Dopamine / metabolism
  • Female
  • Hypoxanthine Phosphoribosyltransferase / deficiency*
  • Lesch-Nyhan Syndrome / metabolism
  • Lesch-Nyhan Syndrome / physiopathology
  • Lesch-Nyhan Syndrome / psychology
  • Lesch-Nyhan Syndrome / surgery
  • Mice
  • Mice, Inbred C57BL
  • Nervous System Diseases / etiology*
  • Prosencephalon / metabolism

Substances

  • Hypoxanthine Phosphoribosyltransferase
  • Dextroamphetamine
  • Dopamine