In a 2020 study, scientists at the Indiana University (IU) School of Medicine discovered that they could use human stem cell models to analyze cell damage from glaucoma. The study, published in Stem Cell Reports, targeted genetic mutations in retinal ganglion cells, which connect the eye and the brain. This discovery enables the development of new methods for slowing disease progression.* 

What they did

The research team was led by Jason Meyer, Ph.D., associate professor of medical and molecular genetics at IU School of Medicine, along with co-first authors of the study, Kirstin VanderWall and Kang-Chieh Huang, both graduate students at Stark Neurosciences Research Institute. 

Using pluripotent stem cells from a patient with a genetic form of glaucoma, the team transformed the cells into retinal ganglion cells. Next, they employed a gene-editing approach, called CRISPR/Cas9, to introduce a mutation commonly associated with glaucoma. In doing so, they were able to find deficiencies related to neurodegeneration and correct the gene defect. 

What they found

The experiment revealed dysfunction in the autophagy process, which is the body’s removal of unnecessary, damaged, and dysfunctional cells to make way for the generation of healthy cells. When the team applied rapamycin (a pharmaceutical compound known to support autophagy), many of the identified neurodegenerative characteristics were arrested, and damaged cells appeared to recover.

“CRISPR/Cas9…not only allowed us to study the disease,” said Huang, “but using this approach we were also able to show how correcting the gene mutation reversed the disease, demonstrating the potential for gene therapy approaches as well.”

What it means

According to Meyer, human stem cells are crucial for studying human diseases, particularly those involving neurodegeneration. Using them to Identify the autophagy process as a target helps focus the lab’s work on exploring the use of different pharmaceutical compounds and gene therapies to treat glaucoma, and possibly other neurodegenerative diseases, as well.

“Once you’ve identified a target like this,” Meyer said, “what’s going wrong in the cells, this opens up a number of possibilities for the eventual development of therapeutic approaches, especially pharmacology approaches to slow down and reverse these degenerative phenotypes.”

*Indiana University School of Medicine. (2020, June, 11). Researchers model human stem cells to identify degeneration in glaucoma. Science Daily. https://www.sciencedaily.com/releases/2020/06/200611133133.htm

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