Mutations of CX46/CX50 and Cataract Development
Cataract is a common disease in the aging population. Gap junction has been considered a central component in maintaining homeostasis for preventing cataract formation. Gap junction channels consist of connexin proteins with more than 20 members. Three genes including GJA1, GJA3, and GJA8, that enco...
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| Format: | Article |
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Frontiers Media S.A.
2022-02-01
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| Series: | Frontiers in Molecular Biosciences |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmolb.2022.842399/full |
| _version_ | 1818285531144912896 |
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| author | Yumeng Shi Xinbo Li Jin Yang |
| author_facet | Yumeng Shi Xinbo Li Jin Yang |
| author_sort | Yumeng Shi |
| collection | DOAJ |
| description | Cataract is a common disease in the aging population. Gap junction has been considered a central component in maintaining homeostasis for preventing cataract formation. Gap junction channels consist of connexin proteins with more than 20 members. Three genes including GJA1, GJA3, and GJA8, that encode protein Cx43 (connexin43), Cx46 (connexin46), and Cx50 (connexin50), respectively, have been identified in human and rodent lens. Cx46 together with Cx50 have been detected in lens fiber cells with high expression, whereas Cx43 is mainly expressed in lens epithelial cells. Disrupted expression of the two connexin proteins Cx46 and Cx50 is directly related to the development of severe cataract in human and mice. In this review article, we describe the main role of Cx46 and Cx50 connexin proteins in the lens and the relationship between mutations of Cx46 or Cx50 and hereditary cataracts. Furthermore, the latest progress in the fundamental research of lens connexin and the mechanism of cataract formation caused by lens connexin dysfunction are summarized. Overall, targeting connexin could be a novel approach for the treatment of cataract. |
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| issn | 2296-889X |
| language | English |
| last_indexed | 2024-12-13T01:10:10Z |
| publishDate | 2022-02-01 |
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| spelling | doaj.art-4487fd7c9c5642b0896d4941f80772162022-12-22T00:04:30ZengFrontiers Media S.A.Frontiers in Molecular Biosciences2296-889X2022-02-01910.3389/fmolb.2022.842399842399Mutations of CX46/CX50 and Cataract DevelopmentYumeng Shi0Xinbo Li1Jin Yang2Key Laboratory of Visual Impairment and Restoration of Shanghai, Department of Ophthalmology and Visual Science, Eye Ear Nose and Throat Hospital of Fudan University, Shanghai, ChinaCasey Eye Institute, Oregon Health and Science University, Portland, OR, United StatesKey Laboratory of Visual Impairment and Restoration of Shanghai, Department of Ophthalmology and Visual Science, Eye Ear Nose and Throat Hospital of Fudan University, Shanghai, ChinaCataract is a common disease in the aging population. Gap junction has been considered a central component in maintaining homeostasis for preventing cataract formation. Gap junction channels consist of connexin proteins with more than 20 members. Three genes including GJA1, GJA3, and GJA8, that encode protein Cx43 (connexin43), Cx46 (connexin46), and Cx50 (connexin50), respectively, have been identified in human and rodent lens. Cx46 together with Cx50 have been detected in lens fiber cells with high expression, whereas Cx43 is mainly expressed in lens epithelial cells. Disrupted expression of the two connexin proteins Cx46 and Cx50 is directly related to the development of severe cataract in human and mice. In this review article, we describe the main role of Cx46 and Cx50 connexin proteins in the lens and the relationship between mutations of Cx46 or Cx50 and hereditary cataracts. Furthermore, the latest progress in the fundamental research of lens connexin and the mechanism of cataract formation caused by lens connexin dysfunction are summarized. Overall, targeting connexin could be a novel approach for the treatment of cataract.https://www.frontiersin.org/articles/10.3389/fmolb.2022.842399/fullgap junctionCx46Cx50cataractlens microcirculationoxidative stress |
| spellingShingle | Yumeng Shi Xinbo Li Jin Yang Mutations of CX46/CX50 and Cataract Development Frontiers in Molecular Biosciences gap junction Cx46 Cx50 cataract lens microcirculation oxidative stress |
| title | Mutations of CX46/CX50 and Cataract Development |
| title_full | Mutations of CX46/CX50 and Cataract Development |
| title_fullStr | Mutations of CX46/CX50 and Cataract Development |
| title_full_unstemmed | Mutations of CX46/CX50 and Cataract Development |
| title_short | Mutations of CX46/CX50 and Cataract Development |
| title_sort | mutations of cx46 cx50 and cataract development |
| topic | gap junction Cx46 Cx50 cataract lens microcirculation oxidative stress |
| url | https://www.frontiersin.org/articles/10.3389/fmolb.2022.842399/full |
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