Epigenetics regulates gene expression and has been confirmed to play a critical role in a variety of metabolic diseases,such as diabetes,obesity,non-alcoholic fatty liver disease(NAFLD),osteoporosis,gout,hyperthyroidi...Epigenetics regulates gene expression and has been confirmed to play a critical role in a variety of metabolic diseases,such as diabetes,obesity,non-alcoholic fatty liver disease(NAFLD),osteoporosis,gout,hyperthyroidism,hypothyroidism and others.The term‘epigenetics’was firstly proposed in 1942 and with the development of technologies,the exploration of epigenetics has made great progresses.There are four main epigenetic mechanisms,including DNA methylation,histone modification,chromatin remodelling,and noncoding RNA(ncRNA),which exert different effects on metabolic diseases.Genetic and non-genetic factors,including ageing,diet,and exercise,interact with epigenetics and jointly affect the formation of a phenotype.Understanding epigenetics could be applied to diagnosing and treating metabolic diseases in the clinic,including epigenetic biomarkers,epigenetic drugs,and epigenetic editing.In this review,we introduce the brief history of epigenetics as well as the milestone events since the proposal of the term‘epigenetics’.Moreover,we summarise the research methods of epigenetics and introduce four main general mechanisms of epigenetic modulation.Furthermore,we summarise epigenetic mechanisms in metabolic diseases and introduce the interaction between epigenetics and genetic or non-genetic factors.Finally,we introduce the clinical trials and applications of epigenetics in metabolic diseases.展开更多
目的探讨原发性中枢神经系统淋巴瘤(primary central nervous system lymphomas,PCNSL)的临床特征、病理类型及构成比率,分析PCNSL的EBV感染率、c-MYC、BCL-2及BCL-6基因异常及免疫球蛋白基因重排情况。方法回顾性分析167例PCNSL的临床...目的探讨原发性中枢神经系统淋巴瘤(primary central nervous system lymphomas,PCNSL)的临床特征、病理类型及构成比率,分析PCNSL的EBV感染率、c-MYC、BCL-2及BCL-6基因异常及免疫球蛋白基因重排情况。方法回顾性分析167例PCNSL的临床病理资料,总结其临床特征、病理类型及构成比率;原位杂交技术检测PCNSL中EBV编码的小RNA(EBER);荧光原位杂交(fluorescence in situ hybridization,FISH)技术检测c-MYC、BCL-2、BCL-6基因扩增及断裂重排情况;免疫球蛋白基因重排检测Ig H和Ig K。结果 PCNSL占所有淋巴瘤的0. 95%;大多为单一病灶,约占60%,且多位于浅部脑组织(66. 93%)及小脑幕上(87. 40%),最常累及额叶和颞叶,51～60岁为发病高峰期。PCNSL中霍奇金淋巴瘤(Hodgkin’s lymphoma,HL)仅1例;非霍奇金淋巴瘤(non-Hodgkin’s lymphoma,NHL) 166例:B细胞淋巴瘤占158例,其中弥漫大B细胞淋巴瘤(diffuse large B-cell lymphoma,DLBCL)最常见; T/NK细胞淋巴瘤8例,其中以ALK阳性间变大细胞淋巴瘤多见。13例原发性中枢神经系统弥漫大B细胞淋巴瘤(primary central nervous system-diffuse large B-cell lymphoma,PCNS-DLBCL) EBER均阴性; 11例PCNS-DLBCL中1例c-MYC基因拷贝数增加,未见断裂重排; 1例BCL-2基因拷贝数增加,未见断裂重排; 2例BCL-6基因拷贝数增加,1例断裂重排;免疫球蛋白Ig H和Ig K呈克隆性重排。结论 PCNSL病理类型多样,HL和NHL均可发生,以PCNSDLBCL最多见,T细胞来源的淋巴瘤以ALK阳性间变大细胞淋巴瘤多见,51～60岁为发病高峰期。展开更多
基金the National Natural Science Foundation of China(No.81770881,82070910 and 82172500)Key R&D Plan of Hunan Province(2020SK2078)+1 种基金Natural Science Foundation of Hunan Province(No.2021JJ40842)National Undergraduate Innovation Training Program of Central South University(Project Number:2022105330213 and 2022105330235).
文摘Epigenetics regulates gene expression and has been confirmed to play a critical role in a variety of metabolic diseases,such as diabetes,obesity,non-alcoholic fatty liver disease(NAFLD),osteoporosis,gout,hyperthyroidism,hypothyroidism and others.The term‘epigenetics’was firstly proposed in 1942 and with the development of technologies,the exploration of epigenetics has made great progresses.There are four main epigenetic mechanisms,including DNA methylation,histone modification,chromatin remodelling,and noncoding RNA(ncRNA),which exert different effects on metabolic diseases.Genetic and non-genetic factors,including ageing,diet,and exercise,interact with epigenetics and jointly affect the formation of a phenotype.Understanding epigenetics could be applied to diagnosing and treating metabolic diseases in the clinic,including epigenetic biomarkers,epigenetic drugs,and epigenetic editing.In this review,we introduce the brief history of epigenetics as well as the milestone events since the proposal of the term‘epigenetics’.Moreover,we summarise the research methods of epigenetics and introduce four main general mechanisms of epigenetic modulation.Furthermore,we summarise epigenetic mechanisms in metabolic diseases and introduce the interaction between epigenetics and genetic or non-genetic factors.Finally,we introduce the clinical trials and applications of epigenetics in metabolic diseases.
