Objective: JAK2 V617F, MPL W515L and JAK2 exon 12 mutations are novel acquired mutations that induce constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders (MPD). The discovery of these mutations provides novel mechanism for activation of signal transduction in hematopoietic malignancies. This research was to investigate their prevalence in Chinese patients with primary myelofibrosis (PMF).Methods: We introduced allele-specific PCR (AS-PCR) combined with sequence analysis to simultaneously screen JAK2 V617F, MPL W515L and JAK2 exon 12 mutations in 30 patients with PMF.Results: Fifteen PMF patients (50.0%) carried JAK2 V617F mutation, and only two JAK2 V617F-negative patients (6.7%) harbored MPL W515L mutation. None had JAK2 exon 12 mutations. Furthermore, these three mutations were not detected in 50 healthy controls.Conclusion: MPL W515L and JAK2 V617F mutations existed in PMF patients but JAK2 exon 12 mutations not. JAK2 V617F and MPL W515L and mutations might contribute to the primary molecular pathogenesis in patients with PMF.
Background: Epidemiological studies show that patients with Parkinson's disease (PD) are prone to have a reduced incidence of ischemic cerebrovascular disease. Previous studies show the correlation between PD and the lipids serum levels. The PD,s patients are found with a reduced serum level of triglyceride and low-density lipoprotein cholesterol (LDL-C); thus, the level of serum uric acid (UA) is closely related to the occurrence and development of PD. Patients with low serum UA levels have a higher chance of developing PD than the ones who do not. However, the relationship between carotid plaques and PD is still unknown. Methods: Our study was based on 68 patients with PD (known as the PD group) and 81 people without PD (known as the control group). Patients in the PD group were of the same age and gender. Both groups were recorded and analyzed for UA, LDL-C, and carotid plaques or intima-media thickness (IMT). The PD group was then divided into three subgroups: the stable plaque group, the unstable plaque group, and the non-plaque group. Results: In the present study, the PD group showed a significantly lower level of UA and LDL-C than the control group (P<0.01); somehow there were no statistically significant differences in the IMT and plaque incidence between the two groups (P>0.05). There were also no significant differences (P>0.05) in both the LDL-C and UA levels in all subgroups, but there was a close relation in both age and duration of disease to IMT. According to the Hoehn and Yahr staging scale, serum levels of LDL-C were inversely correlated in PD patients, while UA was related to the duration of the disease. Conclusions: Our study suggested that there were no differences in carotid artery arteriosclerosis plaque and IMT, but the PD progress was indeed correlated with IMT. Meanwhile, LDL-C and UA had different priorities in H&Y and disease progression.
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