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Bringing Stability To The Protein Defective In Phenylketonuria

Date:
July 6, 2008
Source:
Journal of Clinical Investigation
Summary:
Phenylketonuria is an inherited disease characterized by progressive mental retardation and seizures because the individual is deficient in the protein PAH. Most of the genetic mutations that cause PKU do so because the PAH protein that is generated by the mutated gene is not stable enough to function. New data now suggest that it might be possible to stabilize the mutated PAH protein in individuals with PKU such that it can function normally.

Phenylketonuria (PKU) is an inherited disease characterized by progressive mental retardation and seizures because the individual is deficient in the protein PAH.

Most of the genetic mutations that cause PKU do so because the PAH protein that is generated by the mutated 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.


Story Source:

The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Journal Reference:

  1. Angel L. Pey et al. Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria. Journal of Clinical Investigation, July 1, 2008

Cite This Page:

Journal of Clinical Investigation. "Bringing Stability To The Protein Defective In Phenylketonuria." ScienceDaily. ScienceDaily, 6 July 2008. <www.sciencedaily.com/releases/2008/07/080701185113.htm>.
Journal of Clinical Investigation. (2008, July 6). Bringing Stability To The Protein Defective In Phenylketonuria. ScienceDaily. Retrieved July 25, 2014 from www.sciencedaily.com/releases/2008/07/080701185113.htm
Journal of Clinical Investigation. "Bringing Stability To The Protein Defective In Phenylketonuria." ScienceDaily. www.sciencedaily.com/releases/2008/07/080701185113.htm (accessed July 25, 2014).

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