孟德尔随机化(Mendelian randomization, MR)利用遗传信息进行因果推断。近年来,随着与脑组织基因表达、脑成像及神经系统疾病等表型相关的大规模公共遗传关联数据的扩展,孟德尔随机化被广泛应用于神经病学领域的研究当中。本文将围绕...孟德尔随机化(Mendelian randomization, MR)利用遗传信息进行因果推断。近年来,随着与脑组织基因表达、脑成像及神经系统疾病等表型相关的大规模公共遗传关联数据的扩展,孟德尔随机化被广泛应用于神经病学领域的研究当中。本文将围绕孟德尔随机化的基本原理和局限性以及它在神经病学领域中的多种应用进行综述。另外,本文还提供了孟德尔随机化分析的部分案例,它们不仅解决了某些长期存在的流行病学争议、为探寻神经系统疾病的病理生理学机制提供了独特方法,还为筛选潜在药物靶点及拓展药物新适应症提供了路径。随着全基因组关联研究(GWAS)数据的不断增加,孟德尔随机化必将极大推动神经病学领域的研究进展,该领域相关人员有必要熟悉此研究方法。Mendelian randomization (MR) utilizes genetic information for causal inference. In recent years, with the expansion of large-scale public genetic association data related to phenotypes such as brain tissue gene expression, brain imaging, and neurological diseases, Mendelian randomization has been widely applied in the field of neurology research. This article will review the basic principles and limitations of Mendelian randomization, as well as its various applications in the field of neurology. In addition, this article also provides some cases of Mendelian randomization analysis, which not only solves some long-standing epidemiological controversies and provides a unique method for exploring the pathophysiological mechanisms of neurological diseases, but also provides a pathway for screening potential drug targets and expanding new drug indications. With the continuous increase of genome-wide association studies (GWAS) data, Mendelian randomization will greatly promote research progress in the field of neurology, and it is necessary for relevant personnel in this field to be familiar with this research method.展开更多
目的:研究"无镁细胞外液"诱导海马神经元产生癫痫样放电形式,建立离体癫痫模型。方法:采用24h新生Wistar大鼠,取海马神经元原代培养,神经元特异性烯醇化酶(Neuron specific enolase,NSE)免疫荧光鉴定神经元。体外培养至第9d时...目的:研究"无镁细胞外液"诱导海马神经元产生癫痫样放电形式,建立离体癫痫模型。方法:采用24h新生Wistar大鼠,取海马神经元原代培养,神经元特异性烯醇化酶(Neuron specific enolase,NSE)免疫荧光鉴定神经元。体外培养至第9d时,用"无镁细胞外液"处理3h,使用全细胞膜片钳技术记录神经元在相应时间点的放电情况。结果:通过鉴定可见,所培养的海马神经元纯度接近100%。在"无镁细胞外液"处理3h后致恢复正常细胞培养液培养24h,神经元仍存在自发的"癫痫样放电"。结论:采用本方法体外培养的海马神经元在"无镁细胞外液"的作用下可形成稳定的癫痫样放电,为今后进行癫痫发病机制的研究提供了一种的理想模型。展开更多
文摘孟德尔随机化(Mendelian randomization, MR)利用遗传信息进行因果推断。近年来,随着与脑组织基因表达、脑成像及神经系统疾病等表型相关的大规模公共遗传关联数据的扩展,孟德尔随机化被广泛应用于神经病学领域的研究当中。本文将围绕孟德尔随机化的基本原理和局限性以及它在神经病学领域中的多种应用进行综述。另外,本文还提供了孟德尔随机化分析的部分案例,它们不仅解决了某些长期存在的流行病学争议、为探寻神经系统疾病的病理生理学机制提供了独特方法,还为筛选潜在药物靶点及拓展药物新适应症提供了路径。随着全基因组关联研究(GWAS)数据的不断增加,孟德尔随机化必将极大推动神经病学领域的研究进展,该领域相关人员有必要熟悉此研究方法。Mendelian randomization (MR) utilizes genetic information for causal inference. In recent years, with the expansion of large-scale public genetic association data related to phenotypes such as brain tissue gene expression, brain imaging, and neurological diseases, Mendelian randomization has been widely applied in the field of neurology research. This article will review the basic principles and limitations of Mendelian randomization, as well as its various applications in the field of neurology. In addition, this article also provides some cases of Mendelian randomization analysis, which not only solves some long-standing epidemiological controversies and provides a unique method for exploring the pathophysiological mechanisms of neurological diseases, but also provides a pathway for screening potential drug targets and expanding new drug indications. With the continuous increase of genome-wide association studies (GWAS) data, Mendelian randomization will greatly promote research progress in the field of neurology, and it is necessary for relevant personnel in this field to be familiar with this research method.
文摘目的:研究"无镁细胞外液"诱导海马神经元产生癫痫样放电形式,建立离体癫痫模型。方法:采用24h新生Wistar大鼠,取海马神经元原代培养,神经元特异性烯醇化酶(Neuron specific enolase,NSE)免疫荧光鉴定神经元。体外培养至第9d时,用"无镁细胞外液"处理3h,使用全细胞膜片钳技术记录神经元在相应时间点的放电情况。结果:通过鉴定可见,所培养的海马神经元纯度接近100%。在"无镁细胞外液"处理3h后致恢复正常细胞培养液培养24h,神经元仍存在自发的"癫痫样放电"。结论:采用本方法体外培养的海马神经元在"无镁细胞外液"的作用下可形成稳定的癫痫样放电,为今后进行癫痫发病机制的研究提供了一种的理想模型。
