Department of Ophthalmology.
Touchstone Diabetes Center, Department of Internal Medicine.
JCI Insight. 2021 Sep 8;6(17):e150898. doi: 10.1172/jci.insight.150898.
The metabolic environment is important for neuronal cells, such as photoreceptors. When photoreceptors undergo degeneration, as occurs during retinitis pigmentosa (RP), patients have progressive loss of vision that proceeds to full blindness. Currently, there are no available treatments for the majority of RP diseases. We performed metabolic profiling of the neural retina in a preclinical model of RP and found that TCA cycle intermediates were reduced during disease. We then determined that (a) promoting citrate production within the TCA cycle in retinal neurons during disease progression protected the photoreceptors from cell death and prolonged visual function, (b) supplementation with single metabolites within the TCA cycle provided this therapeutic effect in vivo over time, and (c) this therapeutic effect was not specific to a particular genetic mutation but had broad applicability for patients with RP and other retinal degenerative diseases. Overall, targeting TCA cycle activity in the neural retina promoted photoreceptor survival and visual function during neurodegenerative disease.
代谢环境对神经元细胞很重要,例如光感受器。当光感受器发生退化时,如发生在色素性视网膜炎(RP)中时,患者会出现进行性视力丧失,最终导致完全失明。目前,大多数 RP 疾病都没有有效的治疗方法。我们在 RP 的临床前模型中对神经视网膜进行了代谢谱分析,发现三羧酸(TCA)循环中间产物在疾病发生时减少。然后我们确定:(a)在疾病进展过程中促进视网膜神经元中的 TCA 循环中的柠檬酸生成可保护光感受器免受细胞死亡并延长视觉功能;(b)随着时间的推移,补充 TCA 循环中的单个代谢物在体内提供了这种治疗效果;(c)这种治疗效果不仅针对特定的基因突变,而且对 RP 和其他视网膜退行性疾病的患者具有广泛的适用性。总的来说,靶向神经视网膜中的 TCA 循环活性可促进神经退行性疾病期间光感受器的存活和视觉功能。