Recovery of neurogenic amines in phenylketonuria mice after liver-targeted gene therapy

Hiroya Yagi, Sho Sanechika, Hiroshi Ichinose, Chiho Sumi-Ichinose, Hiroaki Mizukami, Masashi Urabe, Keiya Ozawa, Akihiro Kume

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


Phenylketonuria (PKU) is a common genetic disorder arising from a deficiency of phenylalanine hydroxylase. If left untreated, the accumulation of phenylalanine leads to brain damage and neuropsychological dysfunction. One of the abnormalities found in hyperphenylalaninemic patients and a mouse model of PKU is an aminergic deficit in the brain. We previously showed correction of hyperphenylalaninemia and concomitant behavioral recovery in PKU mice after liver-targeted gene transfer with a viral vector. Here, we addressed whether such a functional recovery was substantiated by an improved amine metabolism in the brain. After gene transfer, brain dopamine, norepinephrine, and serotonin levels in the PKU mice were significantly elevated to normal or near-normal levels, along with systemic improvement of phenylalanine catabolism. The results of biochemical analyses validated the efficacy of PKU gene therapy in the central nervous system.

Original languageEnglish
Pages (from-to)30-34
Number of pages5
Issue number1
Publication statusPublished - 04-01-2012

All Science Journal Classification (ASJC) codes

  • Neuroscience(all)


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