Targeting molecular pathways for the treatment of inherited retinal degeneration
Meltem Kutluer
Li Huang
Valeria Marigo
1.Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy2.Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy3.Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy
摘要：Inherited retinal degeneration is a major cause of incurable blindness characterized by loss of retinal photoreceptor cells. Inherited retinal degeneration is characterized by high genetic and phenotypic het-erogeneity with several genes mutated in patients affected by these genetic diseases. The high genetic heterogeneity of these diseases hampers the development of effective therapeutic interventions for the cure of a large cohort of patients. Common cell demise mechanisms can be envisioned as targets to treat patients regardless the specific mutation. One of these targets is the increase of intracellular calcium ions, that has been detected in several murine models of inherited retinal degeneration. Recently, neurotroph-ic factors that favor the efflux of calcium ions to concentrations below toxic levels have been identified as promising molecules that should be evaluated as new treatments for retinal degeneration. Here, we discuss therapeutic options for inherited retinal degeneration and we will focus on neuroprotective approaches, such as the neuroprotective activity of the Pigment epithelium-derived factor. The character-ization of specific targets for neuroprotection opens new perspectives together with many questions that require deep analyses to take advantage of this knowledge and develop new therapeutic approaches. We believe that minimizing cell demise by neuroprotection may represent a promising treatment strategy for retinal degeneration.
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资助基金：This work was supported by grants from the Telethon Foundation (GGP14180)This work was supported by grants from the Telethon Foundation ( GGP19113)This work was supported by grants from the Telethon Foundation (GGP14180)This work was supported by grants from the Telethon Foundation ( GGP19113)
论文发表日期：2020-10-28
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：9( 1784-1792 )
英文信息