Aims:Multiple genes and environmental factors are known to be involved in congenital heart disease(CHD),but epigenetic variation has received little attention.Monozygotic(MZ)twins with CHD provide a unique model for e...Aims:Multiple genes and environmental factors are known to be involved in congenital heart disease(CHD),but epigenetic variation has received little attention.Monozygotic(MZ)twins with CHD provide a unique model for exploring this phenomenon.In order to investigate the potential role of Deoxyribonucleic Acid(DNA)methyla-tion in CHD pathogenesis,the present study examined DNA methylation variation in MZ twins discordant for CHD,especially ventricular septal defect(VSD).Methods and Results:Using genome-wide DNA methylation profiles,we identified 4004 differentially methylated regions(DMRs)in 18 MZ twin pairs discordant for CHD,and 2826 genes were identified.Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)analysis revealed a list of CHD-associated pathways.To further investigate the role of DNA methylation in VSD,data from 7 pairs of MZ twins with VSD were analyzed.We identified 1614 DMRs corresponding to 1443 genes associated with arrhythmogenic right ventricular cardiomyopathy,cyclic guanosine monopho-sphate-protein kinase G(cGMP-PKG)signaling pathway by KEGG analysis,and cell-cell adhesion,calcium ion transmembrane transport by GO analysis.A proportion of DMR-associated genes were involved in calcium signaling pathways.The methylation changes of calcium signaling genes might be related to VSD pathogenesis.Conclusion:CHD is associated with differential DNA methylation in MZ twins.CHD may be etiologically linked to DNA methylation,and methylation of calcium signaling genes may be involved in the development of VSD.展开更多
We are reporting a case of monozygotic twinning after donor egg intracytoplasmic sperm injection (ICSI). A 34-year-old lady presented to our centre with primary infertility due to severe endometriosis and low egg rese...We are reporting a case of monozygotic twinning after donor egg intracytoplasmic sperm injection (ICSI). A 34-year-old lady presented to our centre with primary infertility due to severe endometriosis and low egg reserve. ICSI with donor eggs was planned. A 24 years old voluntary oocyte donor was investigated and stimulated under antagonist protocol. Total 21 eggs and all in metaphaseⅡwere retrieved. These eggs were injected with the patient's husband sperms by ICSI. Patient's endometrial lining was prepared under hormonal replacement therapy protocol. Two expanded blastocysts were transferred on day 5 of progesterone. Beta human chorionic gonadotropin was positive after 10 days. The first antenatal scan at 6 weeks could pick up only two sacs indicating twin conception. Repeat scan at 12 weeks revealed tri-amniotic triplet conception with two foetuses sharing the same placenta (triamniotic pregnancy with monochorionic twins). The patient was counselled about risks associated with triplet conception and was advised of embryo reduction. Two mono chorionic twins were reduced under ultrasonography guidance. Single pregnancy continued till 21 weeks after which the patient miscarried spontaneously. It is difficult to identify the subset of patients at risk for monozygotic twinning;hence, all patients should be counselled about possibility of monozygotic twinning while deciding the number of embryos to be transferred.展开更多
基金China’s National Natural Science Foundation provided funding for this study(81900222)Guangzhou Science and Technology Program(SL2022A04J01269,202201020646)Guangzhou Health Science and Technology Program(20211A010026).
文摘Aims:Multiple genes and environmental factors are known to be involved in congenital heart disease(CHD),but epigenetic variation has received little attention.Monozygotic(MZ)twins with CHD provide a unique model for exploring this phenomenon.In order to investigate the potential role of Deoxyribonucleic Acid(DNA)methyla-tion in CHD pathogenesis,the present study examined DNA methylation variation in MZ twins discordant for CHD,especially ventricular septal defect(VSD).Methods and Results:Using genome-wide DNA methylation profiles,we identified 4004 differentially methylated regions(DMRs)in 18 MZ twin pairs discordant for CHD,and 2826 genes were identified.Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)analysis revealed a list of CHD-associated pathways.To further investigate the role of DNA methylation in VSD,data from 7 pairs of MZ twins with VSD were analyzed.We identified 1614 DMRs corresponding to 1443 genes associated with arrhythmogenic right ventricular cardiomyopathy,cyclic guanosine monopho-sphate-protein kinase G(cGMP-PKG)signaling pathway by KEGG analysis,and cell-cell adhesion,calcium ion transmembrane transport by GO analysis.A proportion of DMR-associated genes were involved in calcium signaling pathways.The methylation changes of calcium signaling genes might be related to VSD pathogenesis.Conclusion:CHD is associated with differential DNA methylation in MZ twins.CHD may be etiologically linked to DNA methylation,and methylation of calcium signaling genes may be involved in the development of VSD.
文摘We are reporting a case of monozygotic twinning after donor egg intracytoplasmic sperm injection (ICSI). A 34-year-old lady presented to our centre with primary infertility due to severe endometriosis and low egg reserve. ICSI with donor eggs was planned. A 24 years old voluntary oocyte donor was investigated and stimulated under antagonist protocol. Total 21 eggs and all in metaphaseⅡwere retrieved. These eggs were injected with the patient's husband sperms by ICSI. Patient's endometrial lining was prepared under hormonal replacement therapy protocol. Two expanded blastocysts were transferred on day 5 of progesterone. Beta human chorionic gonadotropin was positive after 10 days. The first antenatal scan at 6 weeks could pick up only two sacs indicating twin conception. Repeat scan at 12 weeks revealed tri-amniotic triplet conception with two foetuses sharing the same placenta (triamniotic pregnancy with monochorionic twins). The patient was counselled about risks associated with triplet conception and was advised of embryo reduction. Two mono chorionic twins were reduced under ultrasonography guidance. Single pregnancy continued till 21 weeks after which the patient miscarried spontaneously. It is difficult to identify the subset of patients at risk for monozygotic twinning;hence, all patients should be counselled about possibility of monozygotic twinning while deciding the number of embryos to be transferred.
