Novel function for IHD1 in glioma

Genetic mutations are usually identified in cancer. These alterations can cause loss of function, when one mutation interferes with protein functionality, or gain of function when a mutated protein over-works or is over-expressed in a wrong cellular district. In this case, a protein maintains the same function as a normal one. In some cases, mutation can generate novel functions in a protein.
This is the case of IDH1, the isocitrate dehydrogenase 1 that usually converts the isocitrate into alpha- ketoglutarate. When this protein is mutated, an overproduction of 2 hydroxyglutarate (2HG) is abundantly recovered into cells. 2HG is toxic for brain and its presence is correlated with cancer. X-ray diffraction demonstrated that the mutation at arginine 132 results in the formation of a distinct active site, different from those that catalyzes the normal reaction. So, a novel mutation has been identified and a novel function has been recognized. IDH1 could be considered a new target for therapeutic intervention. A selective and specific small molecule inhibitor could interact only with the mutated form, without interfering with the wild type protein and the glucose metabolism. This discover could hopefully help scientists to identify a treatment for glioma.