1.Association between single nucleotide polymorphism of SEPT14 gene and sporadic PD
Yanxin LI ; Quanquan WANG ; Xiaoma JING ; Yanlei HAO ; Yan YANG ; Zhanyun LV
Chinese Journal of Geriatric Heart Brain and Vessel Diseases 2018;20(3):263-267
Objective To study the association between the single nucleotide polymorphism (SNP) of SEPT14 (rs77231105,rs10241628,rs11981883,rs73701167) and sporadic PD in Chinese Han populationin of Southwest Shandong.Methods One hundred and eighty PD patients from Southwest Shandong served as PD patient group and 200 healthy subjects from Southwest Shandong served as control group in this study.The distribution frequencies of alleles and genotypes in SNP of rs77231105,rs10241628,rs11981883 and rs73701167 were compared by PCR and sequencing respectively.Results No significant difference was found in the distribution frequencies of alleles and genotypes in rs77231105,rs10241628,rs11981883 between the two groups (P>0.05).The distribution frequency of rs73701167 was significantly higher in PD patient group than in control group (31.1% vs 20.5%,OR=1.75,95%CI=1.261-2.428,P=0.001).Conclusion The SNP of SEPT14 rs77231105,rs10241628 and rs1198188 are not associated with PD,the SNP of rs73701167 is associated with PD in Chinese Han population of Southwest Shandong.The allele C is a risk factor for PD.
2.Expression of ferroptosis-related proteins in the hippocampus in an AD mouse model.
Yanxin LI ; Zhanyun LV ; Wei LI ; . Yanlei HAO
Chinese Journal of Nervous and Mental Diseases 2018;44(12):727-731
Objective To investigate the expression of ferroptosis-related proteins in the hippocampus in AD mice. Methods AD mice were created by knocking in PSEN1 p.G378E gene in C57BL/6 mice. The expression of ferroptosis-related proteins, glutathione peroxidase 4 (GPX4), cystine-glutamate exchanger (SLC7A11), long-chain fattyacyl-CoA synthetase 4 (ACSL4) and phosphatidylethanolamine-binding protein1 (PEBP1) in the hippocampus were compared among PSEN1 p.G378E-/-、 PSEN1 p.G378E-/+and WT mice. Results The expression levels of GPX4, PEBP1, SLC7A11 and ACSL4 proteins in the hippocampus were significantly increased in PSEN1 p.G378E-/-mice than in either PSEN1 p.G378E-/+or WT mice (P<0.05). Meanwhile, the expression levels of GPX4 and PSEN1 proteins were higher in PSEN1 p.G378E-/+mice than in WT mice (P<0.05). However, there were no significant differences in expression levels of SLC7A11 and ACSL4 proteins between PSEN1 p.G378E-/+mice and WT mice (P>0.05). Conclusion Expression levels of ferroptosis-related proteins are significantly increased in the hippocampus of PSEN1 p.G378E knock-in mice.