Jonathan Lin, a Pathologist at the University of California, San Diego, School of Medicine has started to receive plenty of blood and skin samples in his mail. That is probably due to his recent findings that there is a certain gene that is linked to the condition known as Achromatopsia or otherwise known as colorblindness.

People who suffer from this condition may have damage in their Fovea, a small part of the retina that is responsible for color vision.

Back in 2015, Lin and his colleagues were able to link Achromatopsia to a gene activating transcription factor 6 (ATF6). This gene would be a code for a protein regulator of cellular stress, particularly known as the unfolded protein response.

That is probably the reason why Lin has been receiving a lot of blood samples because people want to know if the mutations to their ATF6 could have caused the problem with their vision.

The Study

According to Gustavo Aguirre, a medical geneticist who was not involved in Lin’s study. He said that Lin’s paper was actually eye-opening because there was no prior reason to believe that ATF6 contributed to something that may affect the retina.

It was believed that a dysfunction of ATF6 leads to diabetes, stroke, and other complications, but it was never deemed as a reason to cause colorblindness at all.

Lin’s curiosity has led him to team up with Luke Wiseman of the Scripps Research Institute in La Jolla, California.

Wiseman and his colleagues were able to pinpoint a compound known as the AA 147 which activates ATF6 in some cell types. Their data were then forwarded to Lin’s team and Lin used viral vectors to help reprogram the skin and blood cells that were mailed to him prior to the research. This was done to help create pluripotent stem cells so that the researchers can use AA 147 to possibly treat it. Lin, prior to the procedure, said that he doesn’t actually know what will happen.
 


The Result

The experiment found that by activating ATF6 in the stem cells that contain high concentrations of AA 147, the differentiation process began that would turn those cells into endothelial cells that are primed to become blood vessels.

No one knew that just by activating ATF6 that it will lead to blood vessel development. Lin said that this could potentially heal patients with Achromatopsia by inducing such an effect using the said factors.

Not So Fast

Aguirre pointed out that although Lin’s discovery was remarkable and could potentially save a lot of lives, it overreaches the fact that it is only done in a laboratory experiment. It could be that once it is done in clinical trials, it may not lead to that desired effect.

He said that once the Fovea is damaged, they are completely gone. Even though Lin found out that by activating ATF6, one cannot really pinpoint the exact location for blood vessel development to take place.

Even though that may be the case, Aguirre points out that the use of AA 147 could lead to new cures for Diabetes, stroke, and other similar complications.