摘要
Leber遗传性视神经病变(LHON)是一种由线粒体DNA突变引起的致盲性疾病,是研究线粒体异常的经典疾病模型,其主要突变位点为m11778G.A、m.3460G.A和m.14484T.C.LHON细胞模型主要通过淋巴母细胞、成纤维细胞、细胞杂种和诱导多能干细胞等产生,LHON动物模型主要通过鱼藤酮和ND4突变体诱导小鼠产生。尽管对于LHON模型的研究已取得不错成果,但构建理想的实验模型仍存在较多困难,严重限制了对LHON发病机制和治疗药物的探索。详尽了解现有模型在LHON中的应用及特征,有助于完善实验设计和构建新模型。
Leber hereditary optic neuropathy(LHON)is a blinding disease caused by mutations in mitochondrial DNA.It is a classic disease model for studying mitochondrial abnormalities.Its main mutation sites are m11778G.A,m.3460G.A and m.14484T.C.LHON cell models are mainly produced by lymphoblasts,fibroblasts,cell hybrids and induced pluripotent stem cells,while LHON animal models are mainly mice,which are produced by rotenone and ND4 mutants.Although the research on the LHON model has achieved good results,there are still many difficulties in constructing an ideal experimental model,which severely limit the exploring to the pathogenesis and therapeutic drugs of LHON.A detailed understanding of the application and characteristics of existing models in LHON will help improve experimental design and construct new models.
作者
杨雪莹
陈长征
Yang Xueying;Chen Changzheng(Department of Ophthalmology,Renmin Hospital of Wuhan University,Wuhan 430060,China)
出处
《中华眼底病杂志》
CAS
CSCD
北大核心
2021年第10期825-830,共6页
Chinese Journal of Ocular Fundus Diseases
基金
国家自然科学基金(青年项目)(82101115)。
关键词
线粒体疾病
DNA
线粒体
疾病模型
动物
综述
Mitochondrial diseases
DNA,mitochondrial
Disease models,animal
Review
