Molecular basis of essential thrombocythaemia in humans and dogs - a review

A potential cause of essential thrombocythaemia can be seen as the V617F point mutation within Janus kinase 2. This mutation occurs in 60-70% of patients with this disease and is located in the domain acting as an inhibitor. It increases the enzymatic activity of JAK2 kinase and induces intensified sensitivity of cells to cytokines. Identification of mutations in the JAK2 gene has made it possible to describe the molecular pathogenesis of myeloproliferative syndromes, which has enabled more accurate diagnosis and assisted in effective treatment. The significant similarity of the clinical, laboratory and morphological features of myeloproliferative syndromes (including essential thrombocythaemia) in animals and humans suggests that common signalling pathways within the JAK2 gene may be involved in the development of these diseases.