Age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. This disease cell model belongs to AMD type 7, mutation (4504G>A) occur in the HTRA1 gene. Generating pluripotent stem cells from dermal fibroblasts, then differentiate into RPEs. This disease cell model provides a platform to explore disease mechanisms in human genetic AMD.
| Specifications | |
|---|---|
| Organ System | Ocular System |
| Disease | Age-Related Macular Degeneration (AMD) |
| Target Gene | HTRA1 |
| Gene Function | HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. Regulates the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. Inhibits signaling mediated by TGF-beta family members.By acting on TGF-beta signaling, may regulate many physiological processes, including retinal angiogenesis and neuronal survival and maturation during development. |
| Mutation | 4504G> A |
| Phenotype | Decreased SOD3 defense, making RPE more susceptible to oxidative damage and thereby contributing to AMD pathogenesis. |
| Source | Skin fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunostaining |
For Research Use Only. Not For Clinical Use.
