Mutations in the IDH1 gene have been identified in various types of cancer, including gliomas, acute myeloid leukemia (AML), and cholangiocarcinoma. These mutations often occur at a specific site, R132, and result in a neomorphic enzyme activity that converts alpha-ketoglutarate to 2-hydroxyglutarate (2-HG). The accumulation of 2-HG is considered an oncometabolite, contributing to tumorigenesis by altering cellular metabolism and epigenetic regulation.
