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Metabolite Levels Go Awry in Brain Tumours

  December, 11 2009 9:18
your information resource in human molecular genetics

Mutations in an enzyme that result in unusually high brain levels of the metabolite 2-hydroxyglutarate (2HG) may contribute to the formation of certain malignant brain tumours, a Nature paper suggests. Strategies that block 2HG production may prove useful therapeutically.

People with particular brain tumours, such as lower grade gliomas, often carry a mutated version of the gene that encodes the enzyme IDH1. Here, Shinsan Su and colleagues show that these mutations cause the enzyme to catalyse a different reaction, resulting in the production and build-up of 2HG.

Malignant glioma samples with IDH1 mutations had over a 100-fold more 2HG than similar samples from patients lacking the mutation, the team show. So measuring 2HG levels could be used to help identify patients with IDH1 mutant brain tumours, which is useful prognostically as they tend to outlive patients with certain other gliomas.

Author contact:

Shinsan Su (Agios Pharmaceuticals, Cambridge, MA, USA)
E-mail: michael.su@agios.com

Abstract available online.

(C) Nature press release.

Message posted by: Trevor M. D'Souza

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