Article
Reduced levels of dopamine and altered metabolism in brains of HPRT knock-out rats: a new rodent model of Lesch-Nyhan Disease.
Scientific reports - 17 May 2016
Meek Stephen, Thomson Alison J, Sutherland Linda, Sharp Matthew G F, Thomson Julie, Bishop Valerie, Meddle Simone L, Gloaguen Yoann, Weidt Stefan, Singh-Dolt Karamjit, Buehr Mia, Brown Helen K, Gill Andrew C, Burdon Tom
Abstract excerpt
Lesch-Nyhan disease (LND) is a severe neurological disorder caused by loss-of-function mutations in the gene encoding hypoxanthine phosphoribosyltransferase (HPRT), an enzyme required for efficient recycling of purine nucleotides. Although this biochemical defect reconfigures purine metabolism and leads to elevated levels of the breakdown product urea, it remains unclear exactly how loss of HPRT activity disrupts...
Topics
- Animals
- Brain
- Disease Models, Animal
- Dopamine
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Lesch-Nyhan Syndrome
- Male
- Metabolomics
- Mice, Knockout
- Mutation
- Purine Nucleotides
- Rats, Transgenic