发育性和癫痫性脑病93(Developmental and epileptic encephalopathy 93,DEE93)(MIM:618012)是一种常染色体显性遗传神经系统疾病,主要特点为精神运动发育迟缓、早发难治性癫痫和智力低下等,且与ATP6V1A基因变异有关^([1])。DEE93临床...发育性和癫痫性脑病93(Developmental and epileptic encephalopathy 93,DEE93)(MIM:618012)是一种常染色体显性遗传神经系统疾病,主要特点为精神运动发育迟缓、早发难治性癫痫和智力低下等,且与ATP6V1A基因变异有关^([1])。DEE93临床表现差异大,病情轻重不一,重者可因快速进展的早期致命性脑病而死亡,轻者仅表现为轻度至中度智力障碍,伴或不伴癫痫发作^([2-3])。ATP6V1A基因(MIM#607027)染色体位置为3q13.3,包含15个外显子,编码617个氨基酸,是组成ATP酶(V-ATPase)的一个亚基,参与介导真核细胞内的质子运输过程和细胞器的酸化。本文报告了1例全外显子测序发现ATP6V1A基因杂合致病性变异c.937G>C:p.Ala313Pro的婴儿,描述了其临床表现并复习相关文献内容,扩展了ATP6V1A基因突变相关DEE93的临床特征和遗传谱,为该病的诊断、治疗和遗传咨询提供参考。展开更多
Lycii Radicis Cortex(LRC)is a medicinal and food homologous plant with various pharmacological activities,including anti-tumor effects.This study explores the anti-tumor effect of LRC on non-small cell lung cancer(NSC...Lycii Radicis Cortex(LRC)is a medicinal and food homologous plant with various pharmacological activities,including anti-tumor effects.This study explores the anti-tumor effect of LRC on non-small cell lung cancer(NSCLC)and its molecular mechanism using mice bearing Lewis lung carcinoma cells.LRC significantly suppressed the growth of NSCLC.Besides,RNA sequencing of mice tumors and hematoxylin&eosin and immunofluorescence staining revealed that LRC promoted the infiltration of T lymphocytes,specifically GZMB~+CD8~+T lymphocytes,in tumor tissues.The Gene Set Enrichment Analysis of spleen RNA indicated that LRC up-regulated PD-1-downstream pathways,suggesting that LRC exerted its effects through the PDL1/PD-1 pathway.Further experiments revealed that LRC interacted with PD-L1,blocking PD-L1/PD-1 binding and thus restoring the T cell killing activity on tumor cells.Together,these results support using LRC as healthy food to improve anti-tumor immunity in patients with NSCLC.展开更多
BACKGROUND Depression is a disease with a significant global social burden.Single nucleotide polymorphisms(SNPs)are correlated with the development of depression.This study investigates the relationship between polymo...BACKGROUND Depression is a disease with a significant global social burden.Single nucleotide polymorphisms(SNPs)are correlated with the development of depression.This study investigates the relationship between polymorphisms in the GPHN and ATP6V1D gene promoter regions and susceptibility to depression in the Chinese population.AIM To provide new insights into identifying SNPs for predicting depression in the Chinese population.METHODS We conducted a case-control study involving 555 individuals with depression and 509 healthy controls.GPHN rs8020095 and ATP6V1D rs3759755,rs10144417,rs2031564,and rs8016024 in the promoter region were genotyped using nextgeneration sequencing.Dual luciferase reporter genes were employed to assess the transcriptional activity of promoter regions for each SNP genotype,with transcription factors binding to each site predicted using the JASPAR database.RESULTS Compared to healthy controls,the ATP6V1D promoter rs10144417 AG genotype (P = 0.015), rs3759755 AC/CC genotype (P = 0.036), and GPHN gene rs8020095 GA and AA genotypes (GA: P =0.028, GG: P = 0.025) were significantly associated with a lower prevalence of depression. Linked disequilibria werepresent in five SNPs, with the AGATA haplotype frequency in patients significantly lower than in healthy subjects(P = 0.023). Luciferase activity of the rs3759755-A recombinant plasmid was significantly higher than that of thers3759755-C recombinant plasmid (P = 0.026), and the rs8020095-A recombinant plasmid activity was significantlyhigher than that of the rs8020095-G recombinant plasmid (P = 0.001). Transcription factors orthodenticle homeobox2, orthodenticle homeobox 1, forkhead box L1, NK homeobox 3-1, and nuclear factor, interleukin 3 regulateddemonstrated binding affinity with rs3759755A > C and rs8020095A > G.CONCLUSIONThis study demonstrates that SNPs (rs3759755 and rs10144417) in the promoter region of the ATP6V1D and SNP(rs8020095) of GPHN are indeed associated with susceptibility to depression.展开更多
[ Objective] The aim of this study was to investigate effects of various inducers on the expression of cytochrome P450 CYP305 B1 V1 Gene in different tissues of wild mulberry silkworm. [ Method] Referring to the mRNA ...[ Objective] The aim of this study was to investigate effects of various inducers on the expression of cytochrome P450 CYP305 B1 V1 Gene in different tissues of wild mulberry silkworm. [ Method] Referring to the mRNA sequence of CYP305 B1 V1 Gene published in GenBank for wild mulberry silkworm, one pair of primers was designed, and the expression of cytochrome P450 CYP305 B1 V1 Gene in different tissues of wild mulberry silkworm treated by NaF, rutin, cypermethrin and ecdysone was also analyzed by the semi - quantitative RT - PCR. Furthermore, homology comparison and phylogenetic analysis for amino acid sequences of this gene were studied. [ Result] Rutin, cypermethrin and NaF had effects on the expression of P450 CYP305 B1 V1 Gene in different tissues of wild mulberry silkworm, while ecdysone had no significant effect. Homology comparison for amino acids indicated that the amino acid sequence of this gene was the most similar to that of CYP305 B1 gene in Bombyx mori with 100% amino acid identity, and highly similar to those of Tribolium casmneum CYP305A1, Apis mellifera CYP305A1, Drosophi- la melanogaster CYP305A1, Anopheles gambiae CYP305A2and Culex pipiens quinquefasciatus CYP2LI. [ Conclusion] CYP305 B1 V1 Gene of wild mulberry silkworm is likely to mainly take part in the metabolism of exogenous compounds, which is of great significance for revealing the function of cytochrome P450 and the metabolic mechanism of different drugs.展开更多
文摘发育性和癫痫性脑病93(Developmental and epileptic encephalopathy 93,DEE93)(MIM:618012)是一种常染色体显性遗传神经系统疾病,主要特点为精神运动发育迟缓、早发难治性癫痫和智力低下等,且与ATP6V1A基因变异有关^([1])。DEE93临床表现差异大,病情轻重不一,重者可因快速进展的早期致命性脑病而死亡,轻者仅表现为轻度至中度智力障碍,伴或不伴癫痫发作^([2-3])。ATP6V1A基因(MIM#607027)染色体位置为3q13.3,包含15个外显子,编码617个氨基酸,是组成ATP酶(V-ATPase)的一个亚基,参与介导真核细胞内的质子运输过程和细胞器的酸化。本文报告了1例全外显子测序发现ATP6V1A基因杂合致病性变异c.937G>C:p.Ala313Pro的婴儿,描述了其临床表现并复习相关文献内容,扩展了ATP6V1A基因突变相关DEE93的临床特征和遗传谱,为该病的诊断、治疗和遗传咨询提供参考。
基金supported by Natural Science Foundation of Guangdong Province,China(2022A1515011575)National Natural Science Foundation of China,China(81873154)President Foundation of Integrated Hospital of Traditional Chinese Medicine,Southern Medical University,China(1202103010)。
文摘Lycii Radicis Cortex(LRC)is a medicinal and food homologous plant with various pharmacological activities,including anti-tumor effects.This study explores the anti-tumor effect of LRC on non-small cell lung cancer(NSCLC)and its molecular mechanism using mice bearing Lewis lung carcinoma cells.LRC significantly suppressed the growth of NSCLC.Besides,RNA sequencing of mice tumors and hematoxylin&eosin and immunofluorescence staining revealed that LRC promoted the infiltration of T lymphocytes,specifically GZMB~+CD8~+T lymphocytes,in tumor tissues.The Gene Set Enrichment Analysis of spleen RNA indicated that LRC up-regulated PD-1-downstream pathways,suggesting that LRC exerted its effects through the PDL1/PD-1 pathway.Further experiments revealed that LRC interacted with PD-L1,blocking PD-L1/PD-1 binding and thus restoring the T cell killing activity on tumor cells.Together,these results support using LRC as healthy food to improve anti-tumor immunity in patients with NSCLC.
基金Supported by the Natural Science Foundation of Sichuan,China,No.2022NSFSC0778Research Project Foundation of Sichuan Applied Psychology Research Center,No.CSXL-24202+1 种基金Foundation of Sichuan Clinical Research Center for Geriatrics,No.24LHLNYX1-04 and No.24LHLNYX1-06and the Key Laboratory Foundation for Development and Regeneration of Sichuan Province,No.24LHFYSZ1-25.
文摘BACKGROUND Depression is a disease with a significant global social burden.Single nucleotide polymorphisms(SNPs)are correlated with the development of depression.This study investigates the relationship between polymorphisms in the GPHN and ATP6V1D gene promoter regions and susceptibility to depression in the Chinese population.AIM To provide new insights into identifying SNPs for predicting depression in the Chinese population.METHODS We conducted a case-control study involving 555 individuals with depression and 509 healthy controls.GPHN rs8020095 and ATP6V1D rs3759755,rs10144417,rs2031564,and rs8016024 in the promoter region were genotyped using nextgeneration sequencing.Dual luciferase reporter genes were employed to assess the transcriptional activity of promoter regions for each SNP genotype,with transcription factors binding to each site predicted using the JASPAR database.RESULTS Compared to healthy controls,the ATP6V1D promoter rs10144417 AG genotype (P = 0.015), rs3759755 AC/CC genotype (P = 0.036), and GPHN gene rs8020095 GA and AA genotypes (GA: P =0.028, GG: P = 0.025) were significantly associated with a lower prevalence of depression. Linked disequilibria werepresent in five SNPs, with the AGATA haplotype frequency in patients significantly lower than in healthy subjects(P = 0.023). Luciferase activity of the rs3759755-A recombinant plasmid was significantly higher than that of thers3759755-C recombinant plasmid (P = 0.026), and the rs8020095-A recombinant plasmid activity was significantlyhigher than that of the rs8020095-G recombinant plasmid (P = 0.001). Transcription factors orthodenticle homeobox2, orthodenticle homeobox 1, forkhead box L1, NK homeobox 3-1, and nuclear factor, interleukin 3 regulateddemonstrated binding affinity with rs3759755A > C and rs8020095A > G.CONCLUSIONThis study demonstrates that SNPs (rs3759755 and rs10144417) in the promoter region of the ATP6V1D and SNP(rs8020095) of GPHN are indeed associated with susceptibility to depression.
文摘[ Objective] The aim of this study was to investigate effects of various inducers on the expression of cytochrome P450 CYP305 B1 V1 Gene in different tissues of wild mulberry silkworm. [ Method] Referring to the mRNA sequence of CYP305 B1 V1 Gene published in GenBank for wild mulberry silkworm, one pair of primers was designed, and the expression of cytochrome P450 CYP305 B1 V1 Gene in different tissues of wild mulberry silkworm treated by NaF, rutin, cypermethrin and ecdysone was also analyzed by the semi - quantitative RT - PCR. Furthermore, homology comparison and phylogenetic analysis for amino acid sequences of this gene were studied. [ Result] Rutin, cypermethrin and NaF had effects on the expression of P450 CYP305 B1 V1 Gene in different tissues of wild mulberry silkworm, while ecdysone had no significant effect. Homology comparison for amino acids indicated that the amino acid sequence of this gene was the most similar to that of CYP305 B1 gene in Bombyx mori with 100% amino acid identity, and highly similar to those of Tribolium casmneum CYP305A1, Apis mellifera CYP305A1, Drosophi- la melanogaster CYP305A1, Anopheles gambiae CYP305A2and Culex pipiens quinquefasciatus CYP2LI. [ Conclusion] CYP305 B1 V1 Gene of wild mulberry silkworm is likely to mainly take part in the metabolism of exogenous compounds, which is of great significance for revealing the function of cytochrome P450 and the metabolic mechanism of different drugs.
