POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Primary open angle glaucoma 1P (GLC1P) is characterized by early onset, thin central corneas and low intraocular pressure.This disease cell model belongs to GLC1P, duplication of theTBK1 gene causes normal tension glaucoma. Generating pluripotent stem cells from dermal fibroblasts, then differentiate into THY1/CD90-positive neurons . This disease cell model provides a platform to explore disease mechanisms in human glaucoma.
Specifications | |
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Organ System | Ocular System |
Disease | Primary Open Angle Glaucoma (POAG) |
Target Gene | TBK1 |
Gene Function | TBK1 gene is important regulators of autophagy and encodes a kinase that phosphorylates OPTN, which then recruits the microtubule-associated protein 1 light chain 3 beta (MAP1LC3B, LC3B) that is instrumental in assembling the autophagosome and initiating autophagy |
Mutation | Duplicate on chromosome 12q14 |
Phenotype | Increased LC3-II and activated autophagy |
Source | Skin fibroblasts |
Cellular Assays | Whole-cell patch clamp techniques, immunohisto-chemistry |
For Research Use Only. Not For Clinical Use.