Molecular mechanisms underlying inherited photoreceptor degeneration as targets for therapeutic intervention
Retinitis pigmentosa (RP) is a form of retinal degeneration characterized by primary degeneration of rod photoreceptors followed by a secondary cone loss that leads to vision impairment and finally blindness. This is a rare disease with mutations in several genes and high genetic heterogeneity. A ch...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-02-01
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| Series: | Frontiers in Cellular Neuroscience |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fncel.2024.1343544/full |
| _version_ | 1797334881335771136 |
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| author | Andrea Bighinati Elisa Adani Agnese Stanzani Sara D’Alessandro Valeria Marigo Valeria Marigo |
| author_facet | Andrea Bighinati Elisa Adani Agnese Stanzani Sara D’Alessandro Valeria Marigo Valeria Marigo |
| author_sort | Andrea Bighinati |
| collection | DOAJ |
| description | Retinitis pigmentosa (RP) is a form of retinal degeneration characterized by primary degeneration of rod photoreceptors followed by a secondary cone loss that leads to vision impairment and finally blindness. This is a rare disease with mutations in several genes and high genetic heterogeneity. A challenging effort has been the characterization of the molecular mechanisms underlying photoreceptor cell death during the progression of the disease. Some of the cell death pathways have been identified and comprise stress events found in several neurodegenerative diseases such as oxidative stress, inflammation, calcium imbalance and endoplasmic reticulum stress. Other cell death mechanisms appear more relevant to photoreceptor cells, such as high levels of cGMP and metabolic changes. Here we review some of the cell death pathways characterized in the RP mutant retina and discuss preclinical studies of therapeutic approaches targeting the molecular outcomes that lead to photoreceptor cell demise. |
| first_indexed | 2024-03-08T08:27:40Z |
| format | Article |
| id | doaj.art-b02e167583334cd2baf172b8932c079c |
| institution | Directory Open Access Journal |
| issn | 1662-5102 |
| language | English |
| last_indexed | 2024-03-08T08:27:40Z |
| publishDate | 2024-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cellular Neuroscience |
| spelling | doaj.art-b02e167583334cd2baf172b8932c079c2024-02-02T04:21:12ZengFrontiers Media S.A.Frontiers in Cellular Neuroscience1662-51022024-02-011810.3389/fncel.2024.13435441343544Molecular mechanisms underlying inherited photoreceptor degeneration as targets for therapeutic interventionAndrea Bighinati0Elisa Adani1Agnese Stanzani2Sara D’Alessandro3Valeria Marigo4Valeria Marigo5Department of Life Sciences, University of Modena and Reggio Emilia, Modena, ItalyDepartment of Life Sciences, University of Modena and Reggio Emilia, Modena, ItalyDepartment of Life Sciences, University of Modena and Reggio Emilia, Modena, ItalyDepartment of Life Sciences, University of Modena and Reggio Emilia, Modena, ItalyDepartment of Life Sciences, University of Modena and Reggio Emilia, Modena, ItalyCenter for Neuroscience and Neurotechnology, Modena, ItalyRetinitis pigmentosa (RP) is a form of retinal degeneration characterized by primary degeneration of rod photoreceptors followed by a secondary cone loss that leads to vision impairment and finally blindness. This is a rare disease with mutations in several genes and high genetic heterogeneity. A challenging effort has been the characterization of the molecular mechanisms underlying photoreceptor cell death during the progression of the disease. Some of the cell death pathways have been identified and comprise stress events found in several neurodegenerative diseases such as oxidative stress, inflammation, calcium imbalance and endoplasmic reticulum stress. Other cell death mechanisms appear more relevant to photoreceptor cells, such as high levels of cGMP and metabolic changes. Here we review some of the cell death pathways characterized in the RP mutant retina and discuss preclinical studies of therapeutic approaches targeting the molecular outcomes that lead to photoreceptor cell demise.https://www.frontiersin.org/articles/10.3389/fncel.2024.1343544/fulloxidative stressinflammationcGMPcalciumER-stressrhodopsin |
| spellingShingle | Andrea Bighinati Elisa Adani Agnese Stanzani Sara D’Alessandro Valeria Marigo Valeria Marigo Molecular mechanisms underlying inherited photoreceptor degeneration as targets for therapeutic intervention Frontiers in Cellular Neuroscience oxidative stress inflammation cGMP calcium ER-stress rhodopsin |
| title | Molecular mechanisms underlying inherited photoreceptor degeneration as targets for therapeutic intervention |
| title_full | Molecular mechanisms underlying inherited photoreceptor degeneration as targets for therapeutic intervention |
| title_fullStr | Molecular mechanisms underlying inherited photoreceptor degeneration as targets for therapeutic intervention |
| title_full_unstemmed | Molecular mechanisms underlying inherited photoreceptor degeneration as targets for therapeutic intervention |
| title_short | Molecular mechanisms underlying inherited photoreceptor degeneration as targets for therapeutic intervention |
| title_sort | molecular mechanisms underlying inherited photoreceptor degeneration as targets for therapeutic intervention |
| topic | oxidative stress inflammation cGMP calcium ER-stress rhodopsin |
| url | https://www.frontiersin.org/articles/10.3389/fncel.2024.1343544/full |
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