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Adenosine monophosphate deaminase 2 (AMPD2)

In vitro and genetic studies identified a subset of patients with pontocerebellar hypoplasia (PCH) who could benefit from treatment with purine precursors. A genetic screen of 30 patients with early onset PCH and their families identified a subset in the cohort with mutations in AMPD2, an enzyme necessary for biosynthesis of the purine nucleotide guanine. In patient neural progenitor cells, a feedback loop regulating purine biosynthesis was disrupted and treatment with purine precursors rescued protein translation and cell viability. Next steps could include developing animal models of PCH based on mutations in Ampd2.

SciBX 6(34); doi:10.1038/scibx.2013.932
Published online Sept. 5, 2013

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Akizu, N. et al. Cell;
published online Aug. 1, 2013;
Contact: Joseph G. Gleeson, University of California,
San Diego, La Jolla, Calif.