1.Hyperprolinemia type Ⅰ caused by PRODH gene variation: 2 cases report and literature review.
Zhen Hua XIE ; Xian LI ; Meng Jun XIAO ; Jing LIU ; Qiang ZHANG ; Zhen Kun ZHANG ; Yan Ling YANG ; Hai Jun WANG ; Yong Xing CHEN ; Yao Dong ZHANG ; Dong Xiao LI
Chinese Journal of Pediatrics 2023;61(10):935-937
2.Genetic polymorphism of the PRODH and 5-HT(2A) receptor gene in Korean-Chinese and Han nationality in Chinese Yanbian area.
Wan-kui JIANG ; Qing-song XU ; Yong-quan PIAO
Chinese Journal of Medical Genetics 2008;25(1):93-95
OBJECTIVETo investigate the polymorphisms distribution of genes related with mental diseases, such as proline dehydrogenase gene (PRODH) and serotonin 2A(5-HT(2A)) receptor gene, among Korean-Chinese and Han nationality in Chinese Yanbian area.
METHODSBy utilizing techniques of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), the polymorphisms for -1945 region of the PRODH gene and -1438 region of the 5-HT(2A) receptor gene were analyzed.
RESULTSThe PRODH genotype frequencies of MM, Mm and mm in Korean-Chinese population were 61.4%,34.4%,4.2% respectively, the allele frequencies were 0.786 for M and 0.214 for m respectively, and those in Han population were 55.2%,38.5%,6.3%, 0.745 and 0.255 respectively. The 5-HT(2A) receptor gene genotype frequencies of AA, AG and GG in Korean-Chinese population were 15.6%,67.7%,16.7% respectively, the allele frequencies were 0.495 for A and 0.505 for G respectively, and those in Han population were 11.5%,65.6%,22.9%, 0.443 for A and 0.557 for G.
CONCLUSIONAll of the genotype distribution of both loci in Chinese Korean and Han nationality in Yanbian area meet Hardy-Weinberg equilibrium, and show stronger ability in human identity. The data obtained can be used in human identity, paternity testing and Chinese Korean ethnic group study.
Adult ; Animals ; China ; Electrophoresis ; Ethnic Groups ; genetics ; Female ; Gene Frequency ; Genotype ; Humans ; Korea ; ethnology ; Male ; Mental Disorders ; genetics ; Mice ; Polymorphism, Genetic ; Proline Oxidase ; genetics ; Receptor, Serotonin, 5-HT2A ; genetics
3.Troglitazone induced apoptosis via PPARγ activated POX-induced ROS formation in HT29 cells.
Jing WANG ; XiaoWen LV ; JiePing SHI ; XiaoSong HU ; YuGuo DU
Biomedical and Environmental Sciences 2011;24(4):391-399
OBJECTIVEIn order to investigate the potential mechanisms in troglitazone-induced apoptosis in HT29 cells, the effects of PPARγ and POX-induced ROS were explored.
METHODS[3- (4, 5)-dimethylthiazol-2-yl]-2, 5-diphenyltetrazolium bromide (MTT) assay, Annexin V and PI staining using FACS, plasmid transfection, ROS formation detected by DCFH staining, RNA interference, RT-PCR & RT-QPCR, and Western blotting analyses were employed to investigate the apoptotic effect of troglitazone and the potential role of PPARγ pathway and POX-induced ROS formation in HT29 cells.
RESULTSTroglitazone was found to inhibit the growth of HT29 cells by induction of apoptosis. During this process, mitochondria related pathways including ROS formation, POX expression and cytochrome c release increased, which were inhibited by pretreatment with GW9662, a specific antagonist of PPARγ. These results illustrated that POX upregulation and ROS formation in apoptosis induced by troglitazone was modulated in PPARγ-dependent pattern. Furthermore, the inhibition of ROS and apoptosis after POX siRNA used in troglitazone-treated HT29 cells indicated that POX be essential in the ROS formation and PPARγ-dependent apoptosis induced by troglitazone.
CONCLUSIONThe findings from this study showed that troglitazone-induced apoptosis was mediated by POX-induced ROS formation, at least partly, via PPARγ activation.
Antineoplastic Agents ; pharmacology ; Apoptosis ; drug effects ; Chromans ; pharmacology ; Cytochromes c ; genetics ; metabolism ; Gene Expression Regulation, Neoplastic ; HT29 Cells ; Humans ; PPAR gamma ; metabolism ; Proline Oxidase ; metabolism ; Reactive Oxygen Species ; metabolism ; Thiazolidinediones ; pharmacology