Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia

FEBS Lett. 2004 Nov 19;577(3):507-11. doi: 10.1016/j.febslet.2004.10.056.

Abstract

The natural cofactor of phenylalanine hydroxylase (PAH), tetrahydrobiopterin (BH4), regulates the enzyme activity as well as being essential in catalysis. BH4-responsive PAH deficiency is a variant of hyperphenylalaninemia or phenylketonuria (PKU) caused by mutations in the human PAH gene that respond to oral BH4 loading by stimulating enzyme activity and therefore lowering serum phenylalanine. Here, we showed in a coupled transcription-translation in vitro assay that upon expression in the presence of BH4, wild-type PAH enzyme activity was enhanced. We then investigated the effect of BH4 on PAH activity in transgenic mice that had a complete or partial deficiency in the endogenous cofactor biosynthesis. The rate of hepatic PAH enzyme activity increased significantly with BH4 content without affecting gene expression or Pah-mRNA stability. These results indicate that BH4 has a chaperon-like effect on PAH synthesis and/or is a protecting cofactor against enzyme auto-inactivation and degradation also in vivo. Our findings thus contribute to the understanding of the regulation of PAH by its cofactor BH4 on an additional level and provide a molecular explanation for cofactor-responsive PKU.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors*
  • Animals
  • Animals, Newborn
  • Biopterins / analogs & derivatives*
  • Biopterins / deficiency
  • Biopterins / metabolism*
  • Blotting, Western
  • Gene Deletion
  • Gene Expression Regulation, Enzymologic*
  • Genes, Recessive
  • Heterozygote
  • Humans
  • Kinetics
  • Liver / enzymology
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Phenylalanine / genetics
  • Phenylalanine / metabolism
  • Phenylalanine Hydroxylase / genetics
  • Phenylalanine Hydroxylase / metabolism*
  • Phenylketonurias / genetics*
  • Protein Biosynthesis / genetics
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Transcription, Genetic

Substances

  • RNA, Messenger
  • Biopterins
  • Phenylalanine
  • Phenylalanine Hydroxylase
  • sapropterin