Thelansis

  The gene Isocitrate dehydrogenase 1 (IDH1) encodes the protein isocitrate dehydrogenase 1, an enzymatic component of the citric acid cycle. This enzyme facilitates the carboxylation process of isocitrate, leading to alpha-ketoglutarate formation. Recurrent mutations in the IDH1 gene have been observed in 12% of glioblastoma patients and 70% of patients diagnosed with WHO grade II and III astrocytomas and oligodendrogliomas. Within these contexts, the IDH1 mutations target a specific amino acid residue at position 132, causing a substitution from arginine to histidine (R132H). The clinical significance of IDH1 mutations in patients with myelodysplastic syndromes (MDS) remains inadequately understood. The IDH1 enzyme is synthesized based on the genetic instructions present in the IDH1 gene, located on chromosome 2q33.3. The enzyme is situated in both the cytoplasm and peroxisomes. Ordinarily, the IDH1 gene encodes an enzyme reliant on NADPH that facilitates the transformation of ...