University of California (UC) professors accidentally discovered a potential stem cell-derived treatment for blood vessel issues. Interestingly, these scientists were only studying ATF6 gene malformation, which is a cause of an inherited eye disorder.
Patients who are born with a malformed ATF6 gene have issues with their fovea, which is located in the retina and is critical for central vision. People born with this disorder often have issues such as blurred vision, light sensitivity, and color blindness. The official name for an ATF6 disorder is achromatopsia.
Scientists at UC were the first in the world to discover the link between ATF6 malformation and achromatopsia one year ago. When they first published this study, achromatopsia patients from around the world sent in letters to UC expressing their willingness to assist their quest for a cure.
In this latest study, UC researchers used skin cells from three kids in New York who were all born with ATF6 malfunction. Scientists took these cells and transformed them into special stem cells that are able to re-grow themselves.
While the UC researchers were developing these stem cells, they asked the Scripps Research Institute to analyze whether there were any compounds that had the potential to activate ATF6 in achromatopsia patients. After extensive robotic testing, the Scripps Institute sent ten potential chemical compounds back to UC.
As they were examining how the stem cells reacted to these ten compounds, researchers noticed that the AA147 compound both activated the ATF6 gene and caused the stem cells to create new endothelial cells. Endothelial cells are the building blocks of blood vessels.
Study authors said 70 percent of the stem cell culture treated with AA147 produced endothelial cells. This is a significant finding because stem cells often differentiate and produce a wide array of cells rather than one specific strain.
Of course, this research is still in its initial stages and it will take years to develop a drug from AA147. UC researchers are currently working on developing new strains of AA147 that have increased efficacy at lower quantities. They hope this will soon lead to a new blood vessel drug that could be used in clinical trials.
Although researchers discovered a great deal about the ATF6 gene in this study, they are still far away from developing a cure for achromatopsia.
An estimated 1 in 30,000 people around the world are diagnosed with achromatopsia every year. For some reason, Pingelapese islanders have a higher incidence of achromatopsia than any other demographic. Warning signs of the disease often present themselves a few months after a child is born.
Dr. Jonathan Lin, who teaches pathology at UC's San Diego School of Medicine, was the head author on this study. While the majority of researchers in this study were from UC, a few professors from Vanderbilt University and Columbia University participated in this research.
The National Institutes of Health, the U.S. Department of Veterans Affairs, and New York State all helped fund this research.
Anyone interested in reading more about this study should check out the latest edition of Science Signaling. The title of this study is, "The unfolded protein response regulator ATF6 promotes mesodermal differentiation."