首页|期刊导航|中国神经再生研究（英文版）|Targeting molecular pathways for the treatment of inherited retinal degeneration
中国神经再生研究（英文版）2020，Vol.15Issue(10)：1784-1792,9.DOI:10.4103/1673-5374.280303
Targeting molecular pathways for the treatment of inherited retinal degeneration
摘要
Abstract
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.关键词
achromatopsia/calcium/calpains/calpastatin/congenital stationary night blindness/Leber's congenital amaurosis/retinitis pigmentosa/stargardt diseaseKey words
achromatopsia/calcium/calpains/calpastatin/congenital stationary night blindness/Leber's congenital amaurosis/retinitis pigmentosa/stargardt disease引用本文复制引用
Meltem Kutluer,Li Huang,Valeria Marigo..Targeting molecular pathways for the treatment of inherited retinal degeneration[J].中国神经再生研究（英文版）,2020,15(10):1784-1792,9.基金项目
This work was supported by grants from the Telethon Foundation (GGP14180, GGP19113) and the European Union (LSHG-CT-2005-512036 and transMed, MSCA-ITN-2017-765441) (all to VM). Financial support: This work was supported by grants from the Telethon Foundation (GGP14180, GGP19113) and the European Union (LSHG-CT-2005-512036 and transMed, MSCA-ITN-2017-765441) (all to VM). Copyright license agreement: The Copyright License Agreement has been signed by all authors before publication. （GGP14180, GGP19113）
