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We developed a transgenic mouse that contains one copy of the human TBK1 gene that has been integrated into the mouse genome. In the retinal ganglion cells of Tg-TBK1 mice's retinal ganglion cells of Tg-TBK1 mice, more intense TBK1 labelling was found in Tg-TBK1 mice's retinal ganglion cells than in wild-type littermates. At 6 months of age, Homozygous Tg-TBK1 mice had 7. 6% fewer RGCs than hemizygous Tg-TBK1 mice and 20% less RGCs than wild-type mice. As they aged, Tg-TBK1 mice and wild-type littermates were found to have no difference in intraocular pressures. With additional doses of the TBK1 gene duplication, human patients with normal tension glaucoma retheliate. These findings, together, establish the pathogenicity of the TBK1 gene duplication in human glaucoma, and show that excess production of TBK1 kinase may play a role in glaucoma's pathology.
Source link: https://doi.org/10.1093/hmg/ddw372
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