Embryonic Surface Ectoderm-specific Mitofusin 2 Conditional Knockout Induces Congenital Cataracts in Mice.
Embryonic Surface Ectoderm-specific Mitofusin 2 Conditional Knockout Induces Congenital Cataracts in Mice.
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胚胎表面外胚层特异性线粒体融合蛋白 2 条件性敲除诱导小鼠先天性白内障
DOI：
10.1038/s41598-018-19849-2
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发表时间：
2018-01-24
影响因子：
4.6
通讯作者：
Yao K
中科院分区：
文献类型：
--
作者：
Zhao J;Wu X;Wu D;Yu Y;Yu Y;Wang Y;Fu Q;Zhang J;Yao K
遗传性线粒体突变可导致线粒体功能障碍或随机氧化损伤。累积的线粒体损伤是白内障和黄斑变性等与年龄相关的疾病的重要因素。 Mfn2 介导线粒体的融合，并有助于融合与裂变之间的动态平衡，从而决定线粒体的形态。我们在此报告，头部表面外胚层中 Mfn2 功能的条件性丧失会导致一系列先天性眼部缺陷，包括最严重表型中的小而浑浊的晶状体和小眼球。本研究使用Le-Cre转基因小鼠系和Mfn2 flox小鼠系来产生Mfn2条件敲除小鼠。我们的研究揭示了 Mfn2 基因在晶状体发育中的功能，并探讨了线粒体与晶状体透明度之间的关系。 Mfn2 的条件性缺失影响晶状体上皮细胞的增殖、凋亡和线粒体的超微结构。我们得出的结论是，晶状体的正常发育和晶状体透明度取决于正常的 Mfn2 基因功能。
Inherited mitochondrial mutations can result in mitochondrial dysfunction or stochastic oxidative damage. Cumulative mitochondrial damage is an important factor in age-related disorders, such as cataracts and macular degeneration. Mfn2 mediates the fusion of mitochondria and contribute to the dynamic balance between fusion and fission that determines mitochondria morphology. We report here that conditional loss of Mfn2 function in the head surface ectoderm leads to a range of congenital eye defects, including small, opacified lens and small eyeball in the most severe phenotypes. The Le-Cre transgenic mouse line and Mfn2 flox mouse line were used in this study to generate Mfn2 conditional knockout mice. Our study revealed Mfn2 gene function in lens development and addressed the relationship between the mitochondria and lens transparency. Conditional loss of Mfn2 affected lens epithelium cell proliferation, apoptosis and ultrastructure of mitochondria. We conclude that proper development of the lens and lens transparency depend on normal Mfn2 gene function.
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影响因子：
3.4
作者：
Ibaraki, N;Chen, SC;Reddy, VN
通讯作者：
Reddy, VN
影响因子：
21.3
作者：
通讯作者：
--
影响因子：
64.5
作者：
Chen H;Vermulst M;Wang YE;Chomyn A;Prolla TA;McCaffery JM;Chan DC
通讯作者：
Chan DC
影响因子：
3.7
作者：
Dorà NJ;Collinson JM;Hill RE;West JD
通讯作者：
West JD
影响因子：
4.6
作者：
Jiang B;Chen Y;Xu B;Hong N;Liu R;Qi M;Shen L
通讯作者：
Shen L