Genes Responsible for Melanin in Retinal Pigmentation Endothelial Cell Identified

 

In a recent study, researchers have determined several genes responsible for retinal pigmentation.

Retinal pigmentation, in humans, is extremely important for protecting the eye’s photoreceptors from light induced damage. Just like any other skin cell in the human body, the pigmentation of retinal endothelium is determined by the amount of melanin present. 

To determine what gene is responsible for the amount of melanin in an individual's retinal pigment endothelial cells, researchers created a learning framework dubbed “DeepGRP”. This framework analyzed images from the inside of many individuals’ eyes to provide the basis for a genome-wide association study. Upon analyzing the data, 42 heritable single nucleotide polymorphisms were identified. Out of these heritable polymorphisms, the gene ARHGAP18 was recognized as a factor for the creation of melanin. 

This research is important because it provides a look into the genetic components of retinal pigments in the eye, and could provide insight into how retinal disorders such as retinitis pigmentosa could be treated.

Sources:

https://www.science.org/doi/10.1126/sciadv.adw7768

https://pubmed.ncbi.nlm.nih.gov/38728357/