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Carcinogenic effects in a phenylketonuria mouse model.

Neil Sidell¹, Lijuan Hao, Marzia Pasquali

¹Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, Georgia, United States of America. nsidell@emory.edu

|January 28, 2009

Summary

Phenylketonuria (PKU) is a metabolic disorder. Despite elevated phenylacetic acid (PA) in PKU mice, this did not protect against cancer. A PA analog caused an unexpected neuromuscular syndrome in PKU mice.

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Area of Science:

Biochemistry
Genetics
Oncology

Background:

Phenylketonuria (PKU) is a metabolic disorder due to phenylalanine hydroxylase (PAH) deficiency, leading to hyperphenylalaninemia and elevated phenylacetic acid (PA).
PA and its analogs exhibit anticancer properties, suggesting PKU might offer cancer protection via chronically high PA levels.

Purpose of the Study:

To test if chronically elevated PA levels in a genetic mouse model of PKU (PAH(enu2)) provide protection against cancer.
To evaluate the anticancer effects of 4-chlorophenylacetate (4-CPA) in PKU mice and its impact on phenylalanine metabolism.

Main Methods:

Utilized the PAH(enu2) mouse model, exhibiting biochemical profiles similar to human PKU.
Administered 7,12 dimethylbenz[a]anthracene (DMBA) to induce carcinogenesis and assessed tumor development in PKU mice.
Treated PKU mice with 4-CPA as a positive control for anticancer effects.

Main Results:

PKU mice showed significantly elevated phenylalanine and PA levels, with reduced tyrosine, mirroring human PKU.
DMBA-induced tumor development was not significantly different between PKU and control mice.
4-CPA treatment did not affect phenylalanine metabolism but induced an unexplained neuromuscular syndrome in PKU mice.

Conclusions:

The PAH(enu2) mouse model is suitable for studying human PKU.
Chronically elevated PA levels in PKU do not confer protection against DMBA-induced cancer.
4-CPA is not suitable as an anticancer agent in PKU mice due to induced toxicity.