Recent patents of gene mutation relative to JAK/STAT pathway and their implication in myeloproliferative diseases.

The JAK/STAT pathway plays an important role in the regulation of proliferation and differentiation of hematopoietic cells. The JAK family consists of four different JAK kinasesJAK1, JAK2, JAK3, and tyrosine kinase 2. Recent studies have found that JAK2V617F mutation is present in approximately 90-95% of patients with polycythemia vera (PV), and also in approximately half of those with essential thrombocythemia (ET) and primary myelofibrosis (PMF). In addition, several mutations of JAK2 exon 12 have also been reported. The discovery of these molecular markers has not only greatly improved the diagnosis of these chronic myeloproliferative diseases, but also evoked considerable enthusiasm for the development of specific therapies targeted at those mutant genes and their product. In this review, we will discuss recent patents relating to JAK2 mutations including patents on the methods for identifying JAK2-specific polynucleotide sequences and novel pharmacological JAK2 inhibitors.