Newly published research provides the first demonstration of how a genetic mutation associated with a common form of albinism leads to the lack of melanin pigments that characterizes the condition.
In the new research a team led by Brown University biologists Nicholas Bellono and Elena Oancea shows that the protein is necessary for the proper functioning of an ion channel on the melanosome organelle, the little structure in a cell where melanin is made and stored. The ion channel is like a gate that lets electrically charged chloride molecules flow into and out of the melanosome. When the melanosome lacks OCA2 or contains OCA2 with an albinism-associated mutation, the researchers found, the chloride flow doesn’t occur and the melanosome fails to produce melanin, possibly because its acidity remains too high.