Association of vitamin D receptor gene polymorphisms with Parkinson disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Vitamin D receptor (VDR) has been proposed as a candidate gene for susceptibility to Parkinson's disease (PD). This study was set to assess the association between VDR gene Apa I and Taq I polymorphisms and PD in a Chinese Han population.</p><p><b>METHODS</b>Two hundred and eighty five sporadic PD patients and 285 healthy controls were genotyped for the Apa I and Taq I polymorphisms in VDR gene using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.</p><p><b>RESULTS</b>No significant difference was detected in genotype or allele distribution of both Apa I and Taq I polymorphisms between PD patients and controls (P U+003E 0.05). No TT genotype for Taq I was found in the studied population. For Taq I, the distribution of genotype was significantly different between male PD patients and controls (U+03C7 2=4.187, P=0.032, OR=2.149, 95%CI: 1.011-4.567), and the frequency of T allele was significantly higher in male PD patients than male controls (U+03C7 2=3.867, P=0.036, OR=2.064, 95%CI: 0.989-4.307).</p><p><b>CONCLUSION</b>VDR gene Apa I polymorphisms are not associated with sporadic Parkinson's disease, but Taq I may be a risk factor for male PD.</p>

Bone marrow stromal cells transfected with ciliary neurotrophic factor gene ameliorates the symptoms and inflammation in C57BL/6 mice with experimental allergic encephalomyelitis / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the anti-inflammatory effect of bone marrow stromal cells (MSCs) transfected with recombinant adenovirus-mediated ciliary neurotrophic factor (CNTF) gene in C57BL/6 mice with experimental allergic encephalomyelitis (EAE).</p><p><b>METHODS</b>An adenovirus vector containing CNTF gene Ad-CNTF-IRES-GFP was constructed and transfected in the MSCs (MSC-CNTF). After examination of CNTF expression, the transfected cells were transplanted in C57BL/6 mice with MOG 35-55-induced EAE, which were monitored for the changes in the symptoms scores. The levels of tumor necrosis factor-alpha (TNF-alpha), inteferon-gamma (IFN-gamma), interleukin-12P35 (IL-12P35), and IL-10 in the peripheral blood of the mice were detected, and the number of MSC-CNTF cells in the spleen and spinal cord was counted. CD3+ T cell infiltration and TNF-alpha and IFN-gamma expressions in the lesions were also observed after the cell transplantation.</p><p><b>RESULTS</b>CNTF gene transfection resulted in significantly increased CNTF expression in the MSCs. The mice receiving MSC-CNTF transplantation exhibited significantly improved symptoms with shortened disease course and lessened disease severity. The cell transplantation also resulted in significantly decreased peripheral blood TNF-alpha levels, ameliorated CD3+T cell infiltrations and lowered TNF-alpha expression in the lesions, while the levels of IFN-gamma underwent no significant changes.</p><p><b>CONCLUSION</b>Transplantation of CNTF gene-transfected MSCs results in decreased peripheral blood TNF-alpha and IFN-gamma levels and reduced inflammatory cells, CD3-positive cells and TNF-alpha expression in the lesion of EAE, therefore providing better effect than MSCs in relieving the symptoms of EAE in mice.</p>