Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways

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	Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways
	Bi R 1; Logan I 2; Yao YG*1; yaoyg@mail.kiz.ac.cn
	2017
发表期刊	Handbook of Experimental Pharmacology
卷号	期号:页码:published online
摘要	Leber hereditary optic neuropathy (LHON) was the first mitochondrial disease to be identified as being caused by mutations in themitochondrial DNA (mtDNA). This disease has been studied extensively in the past two decades, particularly in Brazilian, Chinese and European populations; and many primary mutations have been reported. However, the disease is enigmatic with many uniquefeatures, and there still are several important questions to be resolved. The incomplete penetrance, the male-biased diseaseexpression and the prevalence in young adults all defy a proper explanation. It has been reported that the development of LHON is affected by the interaction between mtDNA mutations, mtDNA haplogroup background, nuclear genes, environmental factors and epigenetics. Furthermore, with the help of new animal models for LHON that have been created in recent years, we are continuing to learn more about the mechanism of this disease. The stage has now been reached at which there is a good understanding of both the genetic basis of the disease and its epidemiology, but just how the blindness that follows from the death of cells in the optic nerve can be prevented remains to be a pharmacological challenge. In this chapter, we summarize the progress that has been made in various recent studies on LHON, focusing on the molecular pathogenic mechanisms, clinical features, biochemical effects, the pharmacology and its treatment.
关键词	Animal Model Lhon Nuclear Genes Therapy Mtdna
收录类别	SCI
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/10824
专题	科研部门_疾病机理遗传学和进化医学学科组（姚永刚）科研部门_动物模型与人类重大疾病机理重点实验室
通讯作者	yaoyg@mail.kiz.ac.cn
作者单位	1.Division of Medical Genetics & Evolutionary Medicine, Key Laboratory of Animal Models and Human Disease Mechanisms 2.Exmouth, Devon, UK
推荐引用方式 GB/T 7714	Bi R,Logan I,Yao YG,et al. Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways[J]. Handbook of Experimental Pharmacology,2017,(*):published online.
APA	Bi R,Logan I,Yao YG,&yaoyg@mail.kiz.ac.cn.(2017).Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways.Handbook of Experimental Pharmacology,(*),published online.
MLA	Bi R,et al."Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways".Handbook of Experimental Pharmacology .(2017):published online.

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2017012506.pdf（443KB）	期刊论文	出版稿	开放获取	CC BY-NC-SA	请求全文