135 new hyperpigmentation-related genes have been uncovered in a recent study by a scientist of Indian descent. These genes, if targeted for therapy, may aid in the creation of melanin-modifying medications for the treatment of pigmentation disorders, including vitiligo and other dermatological conditions.
The light-absorbing pigment termed melanin is what provides humans with their distinctive skin, hair, and eye colors.
Vivek Bajpai, the lead author of the investigation, claimed that by comprehending the mechanisms that regulate melanin, we can help shield those with lighter skin from developing melanoma, or skin cancer.
We may also create pharmaceuticals that modify melanin for diseases like vitiligo and other pigmentation-related conditions by focusing on these new melanin genes, he continued.
169 functionally different genes that affected melanin synthesis were discovered by the researchers. 135 of these people hadn’t previously been associated with pigmentation.
Research by Bajpai, an assistant professor in the University of Oklahoma’s School of Sustainable Chemical, Biological, and Materials Engineering, and collaborators from Stanford University has been reported in a recent article published in the peer-reviewed journal “Science.”
Melanocytes, the cells that generate pigment, which generates melanin, include specific organelles called melanosomes that are accountable for manufacturing the pigment. The total amount of melanin that each human’s melanocyte produces varies, despite the fact that all humans have a comparable number of melanocytes, which results in a wide range of skin tones.
According to Bajpai, we employed an instrument called CRISPR-Cas9 to alter the genome of cells in order to better understand what actually regulates the manufacturing of varied amounts of melanin.
We systematically eliminated more than 20,000 genes using CRISPR from thousands of billions of melanocytes and tracked how this impacted the generation of melanin. For the purpose of recognising and determining the activity of melanocytes in creating melanin, Bajpai created a novel technique. He was able to determine if the light inside the melanocytes had been absorbed or fragmented by the melanin by shining light through them.
As opposed to cells with little melanin, those with many melanin-producing melanosomes will scatter light substantially more, according to Bajpai.
We were able to tell the difference among cells that contained more or less melanin using a technique called side-scatter cytometry, or flow cytometry. To determine the genes responsible for transforming melanin, these differentiated cells were looked at more closely. We discovered numerous genes—both new and well-known—that are crucial for controlling how much hyperpigmentation is produced in people.
In places closer to the equator and for people who spend extended periods of time in the sun, darker pigmentation has historically been necessary to protect against UV radiation. Less melanin needed to be produced as humans migrated to regions with a reduction in the amount of direct sunlight or overall daylight hours. Melanosomes eventually produce less melanin as a result, allowing them to absorb more sunlight over time.
To find the genes that control the formation of melanin in fungi and bacteria, the research team’s developed and employed method might also be used. Fungi and bacteria produce melanin, which makes them more pathogenic for people or crops. By identifying and focusing on these melanin-producing genes, researchers could create effective treatments for these microorganisms and the disorders they cause.
During the time he worked as a professor at the University of Oklahoma, Bajpai finished his work on the subject. However, one aspect of this study was carried out when he was a postdoctoral scholar conducting research at Stanford University.