Methods and compositions for cell-proliferation-related disorders
Methods of treating and evaluating subjects having neoactive mutants of IDH (e.g., IDH1 or IDH2).
1. A method of evaluating a 2-hydroxyglutaric aciduria human subject, the method comprising analyzing for the presence of a nucleic acid sequence corresponding to an isocitrate dehydrogenase (IDH) mutation having 2-hydroxyglutarate (2HG) neoactivity wherein the analysis comprises sequencing the nucleic acid sequence, thereby evaluating the 2-hydroxyglutaric aciduria human subject.
2. The method of claim 1 , wherein the mutation is an isocitrate dehydrogenase 2 (IDH2) mutation.
3. The method of claim 2 , wherein the IDH2 mutation is IDH2R172K, IDH2R172M, IDH2R172S, IDH2R172G, or IDH2R172W.
4. The method of claim 1 , wherein the nucleic acid sequence is a DNA sequence.
5. The method of claim 1 , wherein the evaluation comprises imaging the 2-hydroxyglutaric aciduria human subject to provide a determination of the presence of 2HG in the subject.
6. The method of claim 5 , wherein the imaging comprises magnetic resonance-based analysis.
7. The method of claim 6 , wherein the magnetic resonance-based analysis comprises MRI or MRS imaging analysis.