Investigating Leber's hereditary optic neuropathy: Cell models and future perspectives

被引：19

作者：

Jankauskaite, Elona ^{[1
]}

Bartnik, Ewa ^{[1
,2
]}

Kodron, Agata ^{[1
]}

机构：

[1] Univ Warsaw, Inst Genet & Biotechnol, Fac Biol, 5a Pawinskiego Str, PL-02106 Warsaw, Poland

[2] Polish Acad Sci, Inst Biochem & Biophys, 5a Pawinskiego Str, PL-02106 Warsaw, Poland

来源：

MITOCHONDRION | 2017年 / 32卷

关键词：

Leber's hereditary optic neuropathy; Mitochondrial DNA; Retinal ganglion cells; Cell line models; Mitochondrial genome editing; PLURIPOTENT STEM-CELLS; ALDOSE REDUCTASE INHIBITOR; MITOCHONDRIAL-DNA MUTATION; MTDNA MUTATIONS; GENE-THERAPY; MOUSE MTDNA; CYBRIDS; LINE; DEATH; LHON;

D O I：

10.1016/j.mito.2016.11.006

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Leber's hereditary optic neuropathy (LHON) was the first human disease found to be associated with a mitochondrial DNA (mtDNA) point mutation. The most common LHON mutations are 11778G>A, 3460G>A or 14484T>C. The most common clinical features of LHON are optic nerve and retina atrophy. The affected tissue is not available for studies, therefore a variety of other cell types are used. However, all models face difficulties and limitations in mitochondrial disease research. The advantages and disadvantages of different cell models used to study LHON, recent advances in animal model generation and novel approaches in this field are discussed. (C) 2016 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

引用

页码：19 / 26

页数：8

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