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Abstract #120388 Published in IGR 25-1
SH-SY5Y human neuronal cells with mutations of the gene are vulnerable under cultured conditions
Ohno-Oishi M; Meiai Z; Sato K; Kanno S; Kawano C; Ishikawa M; Nakazawa TBiochemistry and biophysics reports 2024; 38: 101723
Glaucoma is a common cause of blindness worldwide. Genetic effects are believed to contribute to the onset and progress of glaucoma, but the underlying pathological mechanisms are not fully understood. Here, we set out to introduce mutations into the gene, which is known as being the closely associated with glaucoma, in a human neuronal cell line . We introduced gene mutations with CRISPR/Cas9 into exons and introns into the gene. Both mutations strongly promoted neuronal cell death in normal culture conditions. RNA sequencing and pathway analysis revealed that the transcriptional factor Fos is a target molecule regulating overexpression. We demonstrated that gene mutation of is directly associated with neuronal cell vulnerability Additionally, Fos, which is a downstream signaling molecule of , may be a potential source of new therapeutic targets for neuronal degeneration in diseases such as glaucoma.
Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Japan.
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