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Now, in a study published February 13 in Science Signaling, Lin's team discovered that a chemical compound that activates ATF6 also converts patient-derived stem cells into blood vessels.
"We wanted to see if there was a way to correct this gene defect to restore function and help these patients with vision difficulties and blindness," Lin said. "But it turns out our findings could also help advance the development of new treatments for other diseases caused by lack of blood supply to an organ, such as occurs in stroke and heart attack."
ATF6 - Protein - Transcription - Factor - Genes
The ATF6 protein is a transcription factor, meaning it helps turn other genes "off" or "on," depending on what's needed by the cell. ATF6 is normally activated when the cell is under stress due to the accumulation of unfolded or misfolded proteins. Lin's team previously found that ATF6 is naturally "on" during stem cell development.
After Lin's team first published the link between the ATF6 gene and this type of inherited vision loss, known as achromatopsia or cone-rod dystrophy, a few years ago, people with these conditions began contacting them from around the world. Many had never known the cause of their vision problems and they were eager to see if they had a mutated copy of the ATF6 gene. They were also eager to contribute to research that would further the understanding of the disease and efforts to find a treatment.
Study - Lin - Team - Skin - Samples
For this latest study, Lin's team collected donated skin samples from a family living in New York. Three children in this family were born without fully functioning ATF6 genes. The researchers dialed the skin cells back, developmentally speaking, to produce induced pluripotent stem cells (iPSCs) -- a special type of cell that can both self-renew, making more iPSCs, and differentiate, specializing into almost any other cell type.
Meanwhile, collaborators at The Scripps...
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