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JCI online early table of contents: July 1, 2008
Date:7/1/2008

ated gene is not stable enough to function. New data, generated by Aurora Martinez and colleagues, at the University of Bergen, Norway, suggest that it might be possible to stabilize the mutated PAH protein in individuals with PKU such that it can function normally.

In the study, a high-throughput screen for small molecules that stabilized mutated forms of the PAH protein found in individuals with PKU identified four potential candidates. Two of these molecules were analyzed in more detail and shown to stabilize both normal and mutated PAH in their functional conformation. In addition, these molecules increased the activity and amount of normal PAH and mutated PAH expressed in human cells in vitro and increased PAH activity in the liver of mice. The authors therefore suggest that molecules that stabilize PAH (which are known as chaperones) might provide a new approach to the treatment of individuals with PKU.

TITLE: Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

AUTHOR CONTACT:
Aurora Martinez
University of Bergen, Bergen, Norway.
Phone: 47-55-58-64-27; Fax: 47-55-58-63-60; E-mail: aurora.martinez@biomed.uib.no.

Javier Sancho
Universidad de Zaragoza, Zaragoza, Spain.
Phone: 00-34-976-76-1286; Fax: 00-34-976-76-2123; E-mail: jsancho@unizar.es.

View the PDF of this article at: https://www.the-jci.org/article.php?id=34355


REPRODUCTIVE BIOLOGY: FGF8 mutations linked to diseases caused by deficiency of a hormone needed for reproduction

New data, generated by Nelly Pitteloud and colleagues, at Massachusetts General Hospital, Boston, has identified mutations in the FGF8 gene in individuals with idiopathic hypogonadotropic hypogonadism (IHH), a disease characterized
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Contact: Karen Honey
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215-573-1850
Journal of Clinical Investigation
Source:Eurekalert

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