Functional analysis of the macular degeneration protein ELOVL4

Mutations in the ELOVL4 gene have been linked with a form of macular degeneration, which is a leading cause of blindness in the developed world. Blindness occurs as a result of a breakdown of the macula, the part of the retina that is responsible for central vision. Researchers can genetically identify families with the disease and describe the genetic mutations that lead to blindness. But how the ELOVL4 gene contributes to normal vision and how mutations cause retina cells to malfunction are unknown. A clue to the function of ELOVL4 lies in its similarity to other genes that help produce fatty acids, which are used to make hormones and the membranes that hold cells together. Fatty acids are particularly important in photoreceptor cells, which are fundamental for vision. Dr. Celene Grayson is investigating the role of ELOVL4 in the healthy retina and how mutations cause blindness. Results from the research could improve understanding of the gene’s function and lead to new treatments for patients with macular degeneration.