PDF(Pubmed)
Abstract：
Hereditary optic neuropathies (HONs) such as dominant optic atrophy (DOA) and Leber Hereditary Optic Neuropathy (LHON) are mitochondrial diseases characterized by a degenerative loss of retinal ganglion cells (RGCs) and are a cause of blindness worldwide. To date, there are only limited disease-modifying treatments for these disorders. The discovery of induced pluripotent stem cell (iPSC) technology has opened several promising opportunities in the field of HON research and the search for therapeutic approaches. This systematic review is focused on the two most frequent HONs (LHON and DOA) and on the recent studies related to the application of human iPSC technology in combination with biomaterials technology for their potential use in the development of RGC replacement therapies with the final aim of the improvement or even the restoration of the vision of HON patients. To this purpose, the combination of natural and synthetic biomaterials modified with peptides, neurotrophic factors, and other low- to medium-molecular weight compounds, mimicking the ocular extracellular matrices, with human iPSC or iPSC-derived cell retinal progenitors holds enormous potential to be exploited in the near future for the generation of transplantable RGC populations.
摘要：
遗传性视神经病变(HON)如显性视神经萎缩(DOA)和Leber遗传性视神经病变(LHON)是线粒体疾病,其特征在于视网膜神经节细胞(RGC)的退行性丧失,并且是世界范围内失明的原因。迄今为止,这些疾病只有有限的改善疾病的治疗方法。诱导多能干细胞(iPSC)技术的发现在HON研究和寻找治疗方法领域开辟了几个有希望的机会。本系统综述集中于两种最常见的HON（LHON和DOA），以及与人类iPSC技术与生物材料技术结合应用相关的最新研究，这些研究在RGC替代疗法的开发中具有潜在用途，最终目的是改善甚至恢复HON患者的视力。为此,用肽修饰的天然和合成生物材料的组合，神经营养因子，和其他中低分子量化合物，模仿眼部细胞外基质，人类iPSC或iPSC衍生的细胞视网膜祖细胞具有巨大的潜力，可以在不久的将来开发可移植的RGC群体。
