IDH1IDH2mutaatiot

IDH1 and IDH2 are enzymes involved in the metabolism of isocitrate to alpha-ketoglutarate, a crucial step in the citric acid cycle. Mutations in these genes, IDH1 and IDH2, can lead to various biological and clinical consequences. IDH1 mutations are more commonly associated with neurological disorders, such as gliomas and acute myeloid leukemia, while IDH2 mutations are more frequently linked to hematological malignancies, including acute myeloid leukemia and acute lymphoblastic leukemia.

Mutations in IDH1 and IDH2 can result in the gain of enzymatic activity, leading to the production of 2-hydroxyglutarate (2-HG), a metabolite with oncogenic properties. This altered metabolism can contribute to the development and progression of cancer by promoting cell proliferation, survival, and resistance to therapy. Additionally, IDH mutations have been implicated in the epigenetic regulation of gene expression, further influencing cancer cell behavior.

The identification of IDH mutations has provided valuable insights into the molecular mechanisms underlying cancer development and has led to the development of targeted therapies aimed at inhibiting the oncogenic activity of 2-HG. However, the clinical utility of targeting IDH mutations remains an active area of research, with ongoing efforts to optimize therapeutic strategies and improve patient outcomes.