ABSTRACT
Epigenetic modification genes are defined as genes whose products modify the epigenome directly through DNA methylation, histone modification or chromatin remodeling.More and more studies have shown that mutations in epigenetic modification genes are an important etiology of rare diseases with abnormal cardiac development.And these diseases usually affect multiple organs including heart due to the change of epigenetic components.Moreover, children′s lives and health are often threatened by a lack of effective drugs and complex cardiovascular malformations.This article reviews advances in molecule genetics of Tatton-Brown-Rahman syndrome, Kabuki syndrome, Rubinstein-Taybi syndrome, CHARGE syndrome and Sifrim-Hitz-Weiss syndrome, and mainly elaborates the mechanism of cardiovascular malformations caused by mutations in corresponding epigenetic modification genes, providing more comprehensive reference for clinical diagnosis and management.
ABSTRACT
Epigenetics refers to the heritable changes of gene expression without altering DNA sequence.Epigentic mechanism involves DNA methylation, microRNA, histone modification and so on.Tetralogy of Fallot(TOF)is a common congenital heart disease characterized by ventricular septal defect, pulmonary stenosis, aortic straddling and right ventricular hypertrophy.Many experimental investigations indicate that epigentics plays an important role in the development of the heart.It will be an important research field in the future showing important clinical significance to study the etiology of tetralogy of Fallot.
ABSTRACT
OBJECTIVES@#To observe the electrophysiological changes of astrocytes in the process of hyperoxia induced apoptosis and analyze the relationship between electrophysiological characteristics and morphological changes.@*METHODS@#Astrocytes were exposed to 90% hyperoxia for 12-72 h. The electrophysiological characteristics of astrocytes in each group were detected by patch clamp technique, and the morphological characteristics of astrocytes were observed at the same time. Then the same batch of astrocytes were collected, and the expression levels of caspase-1, caspase-3, gasdermin D (GSDMD) and gasdermin E (GSDME) were detected by Western blotting.@*RESULTS@#From 12 h to 72 h after hyperoxia exposure, the inward current was significantly lower than that of the control group (0.05). At each time point, the morphology of cells changed correspondingly. Western blotting showed that the expression of caspase-1 was increased significantly at 24 h and decreased significantly at 72 h after hyperoxia exposure (0.05), but began to decrease at 48 h (<0.05); GSDME increased gradually at 24 h after hyperoxia exposure (<0.05).@*CONCLUSIONS@#Under hyperoxia exposure, the ion channels of astrocytes are damaged, which can maintain the dysfunction of ion homeostasis, activate GSDME, induce the damaged cells to break away from the apoptotic pathway, and mediate the pyroptosis.
Subject(s)
Humans , Apoptosis , Astrocytes , Caspase 1 , Hyperoxia , Intracellular Signaling Peptides and Proteins , Neoplasm Proteins , Phosphate-Binding Proteins , PyroptosisABSTRACT
Epigenetics refers to the heritable changes of gene expression without altering DNA sequence.Epigentic mechanism involves DNA methylation,microRNA,histone modification and so on.Tetralogy of Fallot (TOF) is a common congenital heart disease characterized by ventricular septal defect,pulmonary stenosis,aortic straddling and right ventricular hypertrophy.Many experimental investigations indicate that epigentics plays an important role in the development of the heart.It will be an important research field in the future showing important clinical significance to study the etiology of tetralogy of Fallot.