Targeting molecular pathways for the treatment of inherited retinal degeneration
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 heterogeneity with several genes mutated in patients affected by these genetic diseases. The hig...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2020-01-01
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| Series: | Neural Regeneration Research |
| Subjects: | |
| Online Access: | http://www.nrronline.org/article.asp?issn=1673-5374;year=2020;volume=15;issue=10;spage=1784;epage=1791;aulast=Kutluer |
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| author | Meltem Kutluer Li Huang Valeria Marigo |
| author_facet | Meltem Kutluer Li Huang Valeria Marigo |
| author_sort | Meltem Kutluer |
| collection | DOAJ |
| description | 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 heterogeneity 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, neurotrophic 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 characterization 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. |
| first_indexed | 2024-12-11T01:53:58Z |
| format | Article |
| id | doaj.art-bb1cc1474c01463c85ef6c3e27ed6d06 |
| institution | Directory Open Access Journal |
| issn | 1673-5374 |
| language | English |
| last_indexed | 2024-12-11T01:53:58Z |
| publishDate | 2020-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Neural Regeneration Research |
| spelling | doaj.art-bb1cc1474c01463c85ef6c3e27ed6d062022-12-22T01:24:40ZengWolters Kluwer Medknow PublicationsNeural Regeneration Research1673-53742020-01-0115101784179110.4103/1673-5374.280303Targeting molecular pathways for the treatment of inherited retinal degenerationMeltem KutluerLi HuangValeria MarigoInherited 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 heterogeneity 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, neurotrophic 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 characterization 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.http://www.nrronline.org/article.asp?issn=1673-5374;year=2020;volume=15;issue=10;spage=1784;epage=1791;aulast=Kutluerachromatopsia; calcium; calpains; calpastatin; congenital stationary night blindness; leber’s congenital amaurosis; retinitis pigmentosa; stargardt disease |
| spellingShingle | Meltem Kutluer Li Huang Valeria Marigo Targeting molecular pathways for the treatment of inherited retinal degeneration Neural Regeneration Research achromatopsia; calcium; calpains; calpastatin; congenital stationary night blindness; leber’s congenital amaurosis; retinitis pigmentosa; stargardt disease |
| title | Targeting molecular pathways for the treatment of inherited retinal degeneration |
| title_full | Targeting molecular pathways for the treatment of inherited retinal degeneration |
| title_fullStr | Targeting molecular pathways for the treatment of inherited retinal degeneration |
| title_full_unstemmed | Targeting molecular pathways for the treatment of inherited retinal degeneration |
| title_short | Targeting molecular pathways for the treatment of inherited retinal degeneration |
| title_sort | targeting molecular pathways for the treatment of inherited retinal degeneration |
| topic | achromatopsia; calcium; calpains; calpastatin; congenital stationary night blindness; leber’s congenital amaurosis; retinitis pigmentosa; stargardt disease |
| url | http://www.nrronline.org/article.asp?issn=1673-5374;year=2020;volume=15;issue=10;spage=1784;epage=1791;aulast=Kutluer |
| work_keys_str_mv | AT meltemkutluer targetingmolecularpathwaysforthetreatmentofinheritedretinaldegeneration AT lihuang targetingmolecularpathwaysforthetreatmentofinheritedretinaldegeneration AT valeriamarigo targetingmolecularpathwaysforthetreatmentofinheritedretinaldegeneration |