1.Immunomodulatory effects of butyrate on bone marrow derived dendritic cells
Yetao QIANG ; Shuiyun WU ; Mutian HAN ; Lu CHENG ; Huimin JIN ; Cheng YAN ; Chong LI ; Xia LIU ; Miaomiao ZHANG ; Qixiang SHAO ; Sheng XIA
Chinese Journal of Immunology 2015;(10):1315-1319
Objective:To investigate the effect of butyrate produced by bacterial metabolism on immune features of murine bone marrow-derived dendritic cells(BMDCs) and its potential mechanisms.Methods: BMDCs were prepared from bone marrow cells of C57BL/6 mice by being cultured with GM-CSF and IL-4.The expression of CD80,CD86,B7-DC and MHCⅡ on BMDCs and its pri-ming ability on the proliferation of OVA257-264 antigen specific CD8+T cell were analyzed by using Flow cytometry.The mRNA levels of IL-6 and IL-12 in BMDCs were detected by real-time fluorescence quantitative PCR(q-PCR).Simultaneously,Griess reaction and Western blot was used for analyzing the levels of NO2-in BMDCs culture supernatant and the ERK phosphortylation in BMDCs respectivly.Results:Butyrate could decrease the levels of CD80,CD86,MHCⅡand B7-DC,and downregulate the capability of BMDCs in priming the proliferation of CD8+T cells.Furthermore,the secretions of IL-6,IL-12,NO2-and the phosphorylation of ERK were sup-pressed.Conclusion:Butyrate down-regulats the immune functions of BMDCs via inhibition of ERK phosphorylation in TLR 4 signaling pathway.
2.Analysis of FOXL2 gene mutation and genotype-phenotype correlation in a Chinese pedigree affected with blepharophimosis-ptosis-epicanthus inversus syndrome.
Hongbo CHENG ; Tao WANG ; Gaigai WANG ; Jiaxiong WANG ; Liyan SHEN ; Mutian HAN ; Shenmin YANG ; Yichao SHI ; Wei WANG ; Hong LI
Chinese Journal of Medical Genetics 2018;35(4):515-517
OBJECTIVETo detect FOXL2 gene mutation in a Chinese pedigree affected with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) type I, and to explore its genotype-phenotype correlation.
METHODSPeripheral blood samples were obtained from 3 patients and 19 healthy members from the pedigree for the isolation of genomic DNA. All exons and flanking sequences of the FOXL2 gene were amplified by PCR with 7 pairs of overlapping primers and sequenced.
RESULTSDNA sequencing indicated that the BPES phenotype in this pedigree was caused by a hotspot c.843_859dup17 mutation. The same mutation was not found among the healthy members of the pedigree.
CONCLUSIONThe c.843_859dup17 frameshift mutation probably underlies the BPES type I in this Chinese pedigree, which may manifest as either BEPS type I or type II.