Mechanisms of Photoreceptor Death in Retinitis Pigmentosa

被引:148
作者
Newton, Fay [1 ]
Megaw, Roly [1 ,2 ]
机构
[1] Univ Edinburgh, Human Genet Unit, MRC, Edinburgh EH8 9YL, Midlothian, Scotland
[2] NHS Lothian, Princess Alexandra Eye Pavil, Edinburgh EH3 9HA, Midlothian, Scotland
基金
英国惠康基金;
关键词
retinitis pigmentosa; photoreceptor; inherited retinal disease; apoptosis; regulated necrosis; autophagy; microglia; clinical trials; ENDOPLASMIC-RETICULUM STRESS; INTRAVITREAL DEXAMETHASONE IMPLANT; RECEPTOR INTERACTING PROTEIN; APOPTOTIC CELL-DEATH; SIGMA; RECEPTOR; RETINAL DEGENERATION; MOUSE MODEL; ER-STRESS; MICROGLIAL PHAGOCYTOSIS; DOCOSAHEXAENOIC ACID;
D O I
10.3390/genes11101120
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Retinitis pigmentosa (RP) is the most common cause of inherited blindness and is characterised by the progressive loss of retinal photoreceptors. However, RP is a highly heterogeneous disease and, while much progress has been made in developing gene replacement and gene editing treatments for RP, it is also necessary to develop treatments that are applicable to all causative mutations. Further understanding of the mechanisms leading to photoreceptor death is essential for the development of these treatments. Recent work has therefore focused on the role of apoptotic and non-apoptotic cell death pathways in RP and the various mechanisms that trigger these pathways in degenerating photoreceptors. In particular, several recent studies have begun to elucidate the role of microglia and innate immune response in the progression of RP. Here, we discuss some of the recent progress in understanding mechanisms of rod and cone photoreceptor death in RP and summarise recent clinical trials targeting these pathways.
引用
收藏
页码:1 / 29
页数:29
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