Research progress on MAFB gene polymorphism and nonsyndromic cleft lip and palate / 口腔疾病防治

@#Nonsyndromic cleft lip with/without cleft palate is a common congenital birth defect of the maxillofacial region. The pathogenic mechanism is related to the interaction of genes and environmental factors. At present, there are many studies on genes, and genome-wide association analysis has found that the new susceptibility gene v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB) is associated with the development of nonsyndromic cleft lip with/without cleft palate. This paper reviews the research progress on the correlation between single nucletide polymorphism(SNPs) in MAFB and nonsyndromic cleft lip with/without cleft palate. The results of this review reveal how the MAFB gene is expressed and differentiated in various cell types and plays an important role in maintaining the development of various organs, such as the brain, pancreas, and parathyroid glands. The MAFB gene is significantly associated with the occurrence of nonsyndromic cleft lip with/without cleft palate in the Asian population. rs13041247, rs11696257, rs17820943 and other teratopoietic single nucleotide loci are the most commonly studied teratopoietic single nucleotide loci, and the research conclusions on the correlation between SNPs in MAFB genes are obviously different in different populations. The interaction between the MAFB gene and other susceptibility genes leads to the occurrence of nonsyndromic cleft lip with/without cleft palate; nevertheless, more in-depth research is needed on specific mechanisms and approaches based on the relationship between these two factors.

Effects of high-molecular-weight polyphenol supplementation on physical fitness age in physically active middle-aged and older women: Randomized controlled trial / 体力科学

Mitochondria activation factor (MAF) which is high-molecular weight polyphenol contained in black tea and oolong tea can increase the mitochondrial membrane potential. MAF supplementation to mice facilitates endurance running performance after 9-week endurance training and muscle hypertrophy induced by synergist ablation. In this study, we examined the effect of oral MAF supplementation on overall physical fitness (expressed as physical fitness age) in physically active middle-aged and older women. This study is a randomized double-blind placebo-controlled trial implemented between January and May 2019 at three fitness facilities in Ibaraki, Japan. Seventy middle-aged women aged 55 to 69 years were randomly assigned into placebo (n = 35) and MAF groups (n = 35). The placebo participants took cornstarch-containing capsules, and the MAF participants took MAF-containing capsules twice a day for 80 days consecutively. During the intake period, all participants were instructed to follow 30-min circuit training program at least twice a week. Physical fitness age was computed with eight physical fitness items assessing upper-extremity muscle strength, locomotion, and postural change. The physical fitness age decreased by 1.48 years (95% confidence interval [CI]: -2.66, -0.30) in the placebo group and 3.01 years (95% CI: -4.16, -1.86) in the MAF group. The reduction was greater in the MAF group, but did not reach statistical significance (p = 0.06). The combination of 80-day of MAF intake and circuit exercise showed beneficial results. However, our results did not indicate clear effects on physical fitness age because of low statistical power. Further studies are necessary to reveal the effects of MAF supplementation.

Research progress of transcription factor c-Maf in renal diseases / 解放军医学杂志

Proto-oncogene c-Maf is a homologene of viral oncogene v-Maf (musculoaponeurotic fibrosarcoma) with a conserved alkaline domain and a basic leucine zipper (b-Zip) in cells, and binds DNA in the form of homologous or heterodimer to activate transcription. Moderate activation of c-Maf can regulate the embryonic development, renal tubular cells differentiation, antioxidant process and the podocyte function, which is closely related to the pathophysiological process of kidney diseases, such as gout and nephrotic syndrome. Elucidating the changes in c-Maf gene regulatory network is of great significance in the early clinical diagnosis, prognosis, targeting treatment of renal diseases. The research progress of transcription factor c-Maf in renal diseases was summarized in present paper.

SNPs analysis of ABCA4 gene in Han Chinese in Beijing / 实用口腔医学杂志

Objective:To provide the basis of single nucleotide polymorphism(SNPs)for identification and analysis of ABCA4 gene related etiologic studies in Han Chinese in Beijing(CHB).Methods:SNPs of ABCA4 gene were analyzed for minor allele frequencies (MAFs),haplotype frequencies,linkage disequilibrium patterns,and tag SNPs by Haploview program using the HapMap data.Re-sults:129(37.6%)of 343 SNPs were monotonic.95 tagging SNPs were identified in 214 eligible SNPs with 3 haplotype blocks identi-fied.The frequencies of the top 2 haplotypes among each of the 3 haplotype blocks were between 91.1% and 94.0%.Conclusion:SNPs in ABCA4 gene were analyzed by Haploview program.The analysis provides clues for future studies involving this gene.

Experimental study on the proliferation and invasion activity of the c-maf gene inhibited multiple myeloma RPMI8226 cells / 中国肿瘤临床

Objective:To investigate the effect of c-maf gene on the MM cells' proliferation and invasion activity. Methods:Lipo-fectin Reagent was used to transfect c-maf siRNA into multiple myeloma cell of RPMI8226. The mRNA expression level of c-maf was detected by RT-PCR.Cell growth curve was measured by MTT assay. Transwell chamber test was used to measure MM cells' in vitro in-vasion activity. The cell cycle distribution were assessed by flow cytomentry. The protein expression levels of survivin,MMP-2, MMP-9, ARK5 and cyclin B1 were detected by Western blot. We also detected the activity of Caspase-3/7. Results:The c-maf siRNA was effectively transfected into cells and the mRNA expression of the c-maf gene was inhibited.MTT test and Transwell chamber test showed that the proliferation and in vitro invasion activity of transfected cells were significantly lower than those of other two groups (P<0.05). Cell cycle of c-maf siRNA transfected group cells was arrested in G2/M phase. The expression levels of survivin,MMP-2, MMP-9,ARK5,cyclin B1 and the activity of Caspase-3/7 between c-maf siRNA transfected group and the other two groups were sta-tistically different (P<0.05). Conclusion:c-maf gene by c-maf siRNA can remarkably inhibit proliferation and invasion of multiple my-eloma cell lines of RPMI8226. C-maf gene may be used as the target for multiple myeloma gene therapy.

Protective association exhibited by the single nucleotide polymorphism (SNP) rs1052133 in the gene human 8-oxoguanine DNA glycosylase (hOGG1) with the risk of squamous cell carcinomas of the head & neck (SCCHN) among north Indians.

Background & objectives: Imbalances in compactly regulated DNA repair pathways in the form of single nucleotide polymorphisms (SNPs) within vital DNA repair genes may result in insufficient DNA repair and increase in DNA breaks thus rendering the human system vulnerable to the debilitatory effects of grave diseases like cancers. The present study involves investigation of association of the non-synonymous SNP rs1052133 (C8069G/Ser326Cys) located in the exonic region of the gene human 8-oxoguanine DNA glycosylase (hOGG1) with the risk of squamous cell carcinomas of the head and neck (SCCHN). Methods: Case-control based genetic association study was performed among 575 (250 SCCHN cases and 325 normal healthy controls) sub-population cluster-matched (Indo-Europeans linguistic subgroup + Caucasoid morphological subtype) samples from the north Indian States of Uttar Pradesh and Uttarakhand using polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing analysis. Results: Our results demonstrated statistically significant protective association for the heterozygous CG [Odds Ratio (OR) 0.6587, 95% Confidence Interval (CI) 0.4615 to 0.9402, P=0.0238], homozygous mutant GG (OR 0.2570, 95% CI 0.1070 to 0.6175, P=0.0013) and combined mutant CG + GG (OR 0.6057, 95% CI 0.4272 to 0.8586, P=0.0059) genotypes. Interpretation & conclusions: The results indicate that the polymorphism rs1052133 is strongly associated with SCCHN susceptibility and the mutant (G) allele might be a protective factor for SCCHN among north Indian subpopulations.

Construction of eukaryotic expression vectorinsertedby MafA and its expression in HepG-2 cells / 重庆医科大学学报

Objective:To construct eukaryotic expression vectors pEGFP-N2/MafA and pEGFP-C1/MafA,encoding the mouse musculus v-maf musculoaponeurotic fibrosarcoma oncogene family,protein A(MafA)gene,for the further research of its expression in HepG-2 cells.Methods:pRNA of the mouse MafA gene was distilled by RT-PCR from the mouse,and inserted into Hind Ⅲand SalⅠrestriction sites by PCR,then cloned into pEGFP-N2 and pEGFP-C1 vectors to obtain plasmids pEGFP-N2/MafA and pEGFP-C1/MafA.Human liver cancer cells(HepG-2) were transfected with formed plasmids by means of lipidosome.The MafA-EGFP fused protein was viewed directly with fluorensce microscope,and expression of MafA and insulin Ⅱ was detected by RT-PCR.Results:The mouse MafA gene was amplified through RT-PCR and successfully cloned into transfer vectors.The favorite gene sequence could be expressed and was completely consistent with that reported in genebank,but the insulin Ⅱ gene expression was not detected.Conclusion:The recombinant plasmids pEGFP-N2/MafA and pEGFP-C1/MafA were successfully constructed.But the insulin Ⅱgene was not expressed.

Microassisted Fertilization of Human Oocytes with Intracytoplasmic Sperm Injection in In VitroFertilization Program / 대한산부인과학회잡지

In spite of much progress in in vitro fertilization and embryo transfer(IVF-ET) program,the pregnancy rate remains at 20~30%, and the endometrial implantation rate per embryotransferred at 10%. Although IVF-ET is widely applied in the treatment of coupleswith male factor infertility, it may fail in many infertile couples with normal semen parameters,and certain couples cannot be accepted for standard IVF-ET due to unfertilization orextremely low fertilization rate of oocytes. Recently, several procedures of microassistedfertilization(MAF) using micromanipulation have been introduced, and pregnancies and birthshave been obtained after intracytoplasmic sperm injection(ICSI).This clinical study was performed to develop and establish ICSI as an effective procedureof MAF in infertile couples who could not be accepted for standard IVF-ET becauseof extremely impaired semen characteristics(Group A) and because of failure in fertilizationof extremely low fertilization rate of oocytes with the conventional fertilization technique inthe previous IVF-ET cycles(Group B). From March, 1995 to December, 1996, a total of 114cycles of IVF-ET with ICSI in 65 infertile patients were included in study group, and theoutcomes of ICSI were analyzed according to fertilization rate, cumulative embryo score(CES), and pregnancy rate.In Group A, 34 patients were evaluated with semen score such as number of totalmotile sperms, and then divided into 4 groups accordingly. In 62 ICSI cycles, the numberof oocytes retrieved after controlled ovarian hyperstimulation(COH) was 12.4+/-6.8, and thenumber of oocytes optimal for ICSI procedure was 8.8+/-5.5. The fertilization rate of 65.7+/-23.6% could be obtained after ICSI. The number of embryos transferred was 4.4+/-2.2 withthe mean CES of 50.5+/-34.3 in ICSI cycles. The overall pregnancy rate was 24.2%(15/62)per cycle and 44.1%(15/34) per patient. There were no significant differences in the pregnancyrates among 4 groups. Although more mature oocytes were retrieved, the fertilizationrate was significantly lower in Group A-1 compared with Group A-IV. However, semenscore did not clearly affect the outcomes of ICSI in couples with severe male factor infertility.In Group B, the number of oocytes retrieved after COH was 10.5+/-6.1 in 49 previouscycles, and 10.8+/-5.7 in 52 ICSI cycles. In ICSI cycles, the number of oocytes optimal forICSI procedure was 8.5+/-5.1 with the fertilization rate of 72.4+/-22.5%. The number ofembryos transferred was 1.4+/-2.4 in previous cycles, and 4.7+/-1.8 with the mean CES of 50.4+/-29.9 in ICSI cycles. In ICSI cycles, the overall pregnancy rate was 30.8%(16/52) percycles and 51.6%(16/31) per patients.In conclusion, MAF of human oocytes with ICSI is a promising fertilization method forIVF-ET patients, especially with few spermatozoa for the conventional methods of in vitroinsemination and with the past history of failure in fertilization or low fertilization rate inthe previous cycles, and ICSI using micromanipulation procedures applied to human oocyteswill provide a range of novel techniques which may dramatically improve the pregnancy ratein IVF-ET program and contribute much to the effective management of infertile couples.

Study on quantitative analysis for the precursors of MAF-secreting T cells (MAF-P) / 中国免疫学杂志

Limiting dilution assay and ~(51)Cr-release assay were used to quantitate the pre-cursors of MAF-secreting T cells in lymph nodes or lymphoblast population of themice infected with Leishmania major(Lm).At lst and 4th week after infectionwith live Lm,the numbers of MAF-P in lymph nodes of resistant mice(CBA/T6)and susceptible mice(BALB/C)showed no significant difference but resistantmice had much more MAF-P than susceptible mice at 8th week.The effect ofantigen,interleukin-2 and irradiated syngeneic spleen cells on the detection of MAF-P were investigated、It was found that syngeneic spleen cells were an impor-tant factors for the assay of MAF-P of lymphoblasts but lymph nodes cells,and that the addition of both antigen and interleukin-2 can significantly increasethe number of MAF-P than antigen or interleukin-2 alone when the cells oflymph nodes were examined.