Characterisation of SLC38A8 and Its Role in Retinal Pathways and Disease.

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Tác giả: Ramzia Abu-Hamed, Ranin Basel, Idan Hecht, Pnina Hilman, Petr Kasparek, Alina Kotlyar, Michaela Krupkova, Jiri Lindovsky, Marcela Palkova, Eran Pras, Jan Prochazka, Nir Raini, Radislav Sedlacek, Noam Shomron, Chen Weiner, Yevgeni Yegorov, Yonathan Zehavi

Ngôn ngữ: eng

Ký hiệu phân loại: 296.1154 Sources

Thông tin xuất bản: Australia : Clinical & experimental ophthalmology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 166497

BACKGROUND: This study investigates the role of the SLC38A8 gene. SLC38A8 facilitates glutamine influx, which converts to glutamate in the visual pathway. Mutations in SLC38A8 are associated with FHONDA syndrome, a subtype of foveal hypoplasia with congenital nystagmus and optic-nerve-decussation defects without pigmentation leading to severe vision loss. METHODS: In vivo and in vitro methods were conducted using retinal cell lines overexpressing SLC38A8, and Slc38a8/Slc38a7 gene-edited mice to evaluate visual function and physiological changes. Statistical analyses included two-way ANOVA, multiple regression, and ANCOVA. RESULTS: In vitro, SLC38A8 overexpression influenced retinal gene expression, light detection, and visual perception, as well as glutamine and glutamate dynamics. In Y79 CONCLUSIONS: Our findings underscore SLC38A8 role in retinal function and glutamine-glutamate metabolism, with clinical implications for FHONDA and potential future dietary intervention targeting glutamine or glutamate.
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