Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice

Mol Genet Metab. 2005 Dec:86 Suppl 1:S153-5. doi: 10.1016/j.ymgme.2005.09.015. Epub 2005 Nov 11.

Abstract

Tetrahydrobiopterin (BH4) supplementation in patients with BH4-responsive phenylalanine hydroxylase (PAH) deficiency is an alternative to low-phenylalanine diet. To further investigate hepatic BH4-responsiveness, oral administration of 50 mg BH4/kg/day for 5 weeks was performed in wild-type mice. We observed a 2-fold increase in PAH protein by quantitative Western blot analysis and a 1.7-fold increase in enzyme activity, but no change in Pah-mRNA expression by quantitative real-time PCR analysis in treated mice compared to controls. Our findings support the proposed chemical-chaperone effect of BH4 to protect PAH.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Administration, Oral
  • Animals
  • Biopterins / administration & dosage
  • Biopterins / analogs & derivatives*
  • Biopterins / pharmacology
  • Gene Expression Regulation, Enzymologic*
  • Liver / drug effects
  • Liver / enzymology
  • Mice
  • Phenylalanine Hydroxylase / biosynthesis
  • Phenylalanine Hydroxylase / genetics
  • Phenylalanine Hydroxylase / metabolism*
  • RNA, Messenger / biosynthesis

Substances

  • RNA, Messenger
  • Biopterins
  • Phenylalanine Hydroxylase
  • sapropterin