| Autor: |
Patton, Kyle, Hsieh, Wen-Chieh, Aguilar, R. Claudio, Fekete, Donna |
| Rok vydání: |
2014 |
| Předmět: |
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| Zdroj: |
The Summer Undergraduate Research Fellowship (SURF) Symposium |
| Popis: |
Lowe syndrome (LS) is a fatal genetic disorder in which inheritance of a mutated form of the OCRL1 gene leads to kidney, eye, and brain defects. Understanding how LS impairs the function of these organs at the cellular level is important to gain a fuller perspective of the disease and enable the discovery of targets for treatment. Studies have revealed that LS fibroblasts have impaired abilities to migrate and generate sensory organelles known as primary cilia. However, it is unknown how these problems play out in other cell types from organs associated with the disease. In order to understand how LS-associated deficits are produced at the cellular level in different tissue types, we are seeking to develop an induced pluripotent stem cell (iPSC) model of LS by overexpression of pluripotency-associated genes c-Myc, Klf4, Oct4, and Sox2 as carried into the host genome of patient fibroblasts by lentiviral vectors. Stem-cell like colonies of lentiviral-treated fibroblasts that subsequently develop will be cultured and screened to determine if they express pluripotency markers such as Tra-1-60 and Nanog using immunostaining and quantitative polymerase chain reaction. From this point, there is a broad range of applications for understanding and treating LS through differentiating LS iPSCs into specific cell types (such as neurons and epithelial cells) for drug screening and further analysis into how the disease causes its organ-specific effects. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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