Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice
Glaucoma is one of the leading causes of bilateral blindness affecting nearly 8 million people worldwide. Glaucoma is characterized by a progressive loss of retinal ganglion cells (RGCs) and is often associated with elevated intraocular pressure (IOP). However, patients with normal tension glaucoma...
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Published in | Human molecular genetics Vol. 19; no. 13; pp. 2606 - 2615 |
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Main Authors | , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Oxford
Oxford University Press
01.07.2010
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Abstract | Glaucoma is one of the leading causes of bilateral blindness affecting nearly 8 million people worldwide. Glaucoma is characterized by a progressive loss of retinal ganglion cells (RGCs) and is often associated with elevated intraocular pressure (IOP). However, patients with normal tension glaucoma (NTG), a subtype of primary open-angle glaucoma (POAG), develop the disease without IOP elevation. The molecular pathways leading to the pathology of NTG and POAG are still unclear. Here, we describe the phenotypic characteristics of transgenic mice overexpressing wild-type (Wt) or mutated optineurin (Optn). Mutations E50K, H486R and Optn with a deletion of the first (amino acids 153–174) or second (amino acids 426–461) leucine zipper were used for overexpression. After 16 months, histological abnormalities were exclusively observed in the retina of E50K mutant mice with loss of RGCs and connecting synapses in the peripheral retina leading to a thinning of the nerve fiber layer at the optic nerve head at normal IOP. E50K mice also showed massive apoptosis and degeneration of entire retina, leading to approximately a 28% reduction of the retina thickness. At the molecular level, introduction of the E50K mutation disrupts the interaction between Optn and Rab8 GTPase, a protein involved in the regulation of vesicle transport from Golgi to plasma membrane. Wt Optn and an active GTP-bound form of Rab8 complex were localized at the Golgi complex. These data suggest that alternation of the Optn sequence can initiate significant retinal degeneration in mice. |
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AbstractList | Glaucoma is one of the leading causes of bilateral blindness affecting nearly 8 million people worldwide. Glaucoma is characterized by a progressive loss of retinal ganglion cells (RGCs) and is often associated with elevated intraocular pressure (IOP). However, patients with normal tension glaucoma (NTG), a subtype of primary open-angle glaucoma (POAG), develop the disease without IOP elevation. The molecular pathways leading to the pathology of NTG and POAG are still unclear. Here, we describe the phenotypic characteristics of transgenic mice overexpressing wild-type (Wt) or mutated optineurin (Optn). Mutations E50K, H486R and Optn with a deletion of the first (amino acids 153–174) or second (amino acids 426–461) leucine zipper were used for overexpression. After 16 months, histological abnormalities were exclusively observed in the retina of E50K mutant mice with loss of RGCs and connecting synapses in the peripheral retina leading to a thinning of the nerve fiber layer at the optic nerve head at normal IOP. E50K mice also showed massive apoptosis and degeneration of entire retina, leading to approximately a 28% reduction of the retina thickness. At the molecular level, introduction of the E50K mutation disrupts the interaction between Optn and Rab8 GTPase, a protein involved in the regulation of vesicle transport from Golgi to plasma membrane. Wt Optn and an active GTP-bound form of Rab8 complex were localized at the Golgi complex. These data suggest that alternation of the Optn sequence can initiate significant retinal degeneration in mice. |
Author | Tomarev, Stanislav Kawase, Kazuhide Iwata, Takeshi Nakaya, Naoki Akahori, Masakazu Minami, Masayoshi Noda, Setsuko Takada, Yuichiro Noda, Toru Sasaoka, Masaki Obazawa, Minoru Shimazaki, Atsushi Yamamoto, Tetsuya Chi, Zai-Long |
AuthorAffiliation | 1 National Institute of Sensory Organs , National Hospital Organization Tokyo Medical Center , 2-5-1 Higashigaoka, Meguro-ku, Tokyo 152-8902 , Japan 3 Department of Ophthalmology , Gifu University Graduate School of Medicine , 1-1 Yanagido, Gifu 501-1194 , Japan 5 Research & Development Center , Santen Pharmaceutical Co., Ltd , 8916-16, Takayama-cho, Ikoma, Nara Prefecture 630-0101 , Japan 2 National Eye Institute, National Institutes of Health , 5635 Fishers Lane, Room 1124, Rockville, MD 20852 , USA 4 Department of Nursing , Tokai University School of Health Sciences , Boseidai, Isehara, Kanagawa Prefecture 259-1193 , Japan and |
AuthorAffiliation_xml | – name: 1 National Institute of Sensory Organs , National Hospital Organization Tokyo Medical Center , 2-5-1 Higashigaoka, Meguro-ku, Tokyo 152-8902 , Japan – name: 2 National Eye Institute, National Institutes of Health , 5635 Fishers Lane, Room 1124, Rockville, MD 20852 , USA – name: 3 Department of Ophthalmology , Gifu University Graduate School of Medicine , 1-1 Yanagido, Gifu 501-1194 , Japan – name: 4 Department of Nursing , Tokai University School of Health Sciences , Boseidai, Isehara, Kanagawa Prefecture 259-1193 , Japan and – name: 5 Research & Development Center , Santen Pharmaceutical Co., Ltd , 8916-16, Takayama-cho, Ikoma, Nara Prefecture 630-0101 , Japan |
Author_xml | – sequence: 1 givenname: Zai-Long surname: Chi fullname: Chi, Zai-Long organization: National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo 152-8902, Japan – sequence: 2 givenname: Masakazu surname: Akahori fullname: Akahori, Masakazu organization: National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo 152-8902, Japan – sequence: 3 givenname: Minoru surname: Obazawa fullname: Obazawa, Minoru organization: National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo 152-8902, Japan – sequence: 4 givenname: Masayoshi surname: Minami fullname: Minami, Masayoshi organization: National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo 152-8902, Japan – sequence: 5 givenname: Toru surname: Noda fullname: Noda, Toru organization: National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo 152-8902, Japan – sequence: 6 givenname: Naoki surname: Nakaya fullname: Nakaya, Naoki organization: National Eye Institute, National Institutes of Health, 5635 Fishers Lane, Room 1124, Rockville, MD 20852, USA – sequence: 7 givenname: Stanislav surname: Tomarev fullname: Tomarev, Stanislav organization: National Eye Institute, National Institutes of Health, 5635 Fishers Lane, Room 1124, Rockville, MD 20852, USA – sequence: 8 givenname: Kazuhide surname: Kawase fullname: Kawase, Kazuhide organization: Department of Ophthalmology, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu 501-1194, Japan – sequence: 9 givenname: Tetsuya surname: Yamamoto fullname: Yamamoto, Tetsuya organization: Department of Ophthalmology, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu 501-1194, Japan – sequence: 10 givenname: Setsuko surname: Noda fullname: Noda, Setsuko organization: Department of Nursing, Tokai University School of Health Sciences, Boseidai, Isehara, Kanagawa Prefecture 259-1193, Japan and – sequence: 11 givenname: Masaki surname: Sasaoka fullname: Sasaoka, Masaki organization: Research & Development Center, Santen Pharmaceutical Co., Ltd, 8916-16, Takayama-cho, Ikoma, Nara Prefecture 630-0101, Japan – sequence: 12 givenname: Atsushi surname: Shimazaki fullname: Shimazaki, Atsushi organization: Research & Development Center, Santen Pharmaceutical Co., Ltd, 8916-16, Takayama-cho, Ikoma, Nara Prefecture 630-0101, Japan – sequence: 13 givenname: Yuichiro surname: Takada fullname: Takada, Yuichiro organization: National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo 152-8902, Japan – sequence: 14 givenname: Takeshi surname: Iwata fullname: Iwata, Takeshi email: iwatatakeshi@kankakuki.go.jp organization: National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo 152-8902, Japan |
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Keywords | Macular degeneration Progressive Eye disease Vertebrata Mammalia Retinopathy Mouse Rodentia Gene overexpression Genetics |
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Snippet | Glaucoma is one of the leading causes of bilateral blindness affecting nearly 8 million people worldwide. Glaucoma is characterized by a progressive loss of... |
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SubjectTerms | Amino Acid Substitution Animals Apoptosis Biological and medical sciences Eye Proteins - genetics Eye Proteins - metabolism Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Glaucoma - genetics Medical sciences Mice Mice, Inbred Strains Mice, Transgenic Molecular and cellular biology Mutant Proteins - genetics Mutant Proteins - metabolism Ophthalmology Optic Nerve - pathology Protein Binding rab GTP-Binding Proteins - metabolism Retinal Degeneration - genetics Retinal Ganglion Cells - pathology Retinopathies |
Title | Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice |
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