检索结果-南通市图书馆

Wilson disease:At the crossroads between genetics and epigeneticsdA review of the evidence

Liver Research 2017年第2期1卷 121-130页

作者： Dorothy A.Kieffer Valentina Medici Department of Internal Medicine Division of Gastroenterology and HepatologyUniversity of CaliforniaDavisCAUSA

Environmental factors,including diet,exercise,stress,and toxins,profoundly impact disease *** review examines how Wilson disease(WD),an autosomal recessive genetic disorder,is influenced by genetic and environmental *** is caused by mutations in the copper-transporter gene ATP7B,leading to the accumulation of copper in the liver and brain,resulting in hepatic,neurological,and psychiatric *** symptoms range in severity and can first appear anytime between early childhood and old *** 300 disease-causing mutations in ATP7B have been identified,but attempts to link genotype to the phenotypic presentation have yielded little insight,prompting investigators to identify alternative mechanisms,such as epigenetics,to explain the highly varied clinical ***,WD is accompanied by structural and functional abnormalities in mitochondria,potentially altering the production of metabolites that are required for epigenetic regulation of gene ***,environmental exposure affects the regulation of gene expression and mitochondrial *** present the“multi-hit”hypothesis of WD progression,which posits that the initial hit is an environmental factor that affects fetal gene expression and epigenetic mechanisms and subsequent“hits”are environmental exposures that occur in the offspring after *** environmental hits and subsequent changes in epigenetic regulation may impact copper accumulation and ultimately WD *** changes,including diet,increased physical activity,stress reduction,and toxin avoidance,might influence the presentation and course of WD,and therefore may serve as potential adjunctive or replacement therapies.

关键词： Wilson disease modifier gene Epigenetics Mitochondria

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：