Bascom Palmer Eye Institute, University of Miami, Miller School of Medicine, Miami, FL, United States.
Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, FL, United States.
Sci Rep. 2018 Apr 3;8(1):5587. doi: 10.1038/s41598-018-23836-y.
In many human disorders mitochondrial dysfunction is central to degeneration of retinal ganglion cells. As these cells do not regenerate, vision is irreversibly lost. Here we show reversal of visual dysfunction by a mitochondrially targeted adeno associated virus in transgenic mice harboring a G11778A mutation in the ND4 subunit of complex I persists longterm and it is associated with reduced loss of RGCs and their axons, improved oxidative phosphorylation, persistence of transferred ND4 DNA and transcription of ND4 mRNA.
在许多人类疾病中，线粒体功能障碍是视网膜神经节细胞变性的核心。由于这些细胞不能再生，视力不可逆转地丧失。在这里，我们展示了一种靶向线粒体的腺相关病毒在携带 I 复合物 ND4 亚单位 G11778A 突变的转基因小鼠中的作用，这种病毒可以长期逆转视觉功能障碍，并且与减少 RGC 及其轴突的丢失、改善氧化磷酸化、转移的 ND4 DNA 的持久性和 ND4 mRNA 的转录有关。
