Scientists at the Ocular Genomics Institute of Mass Eye and Ear and Harvard Medical School are reporting an exciting discovery about the role of tiny particles called extracellular vesicles (EVs) in inherited retinal degenerations (IRDs)—a leading cause of vision loss. The researchers hope their discovery can enable EVs to serve as biomarkers that enable clinicians to better manage and treat patients with the inherited disorders.
IRDs are caused by mutations in more than 280 genes, which lead to the deterioration of light-sensing cells in the retina over time. In a new study, researchers created stem cells with a mutation in the PRPF31 gene—linked to about 3% of IRD cases— and differentiated them into retinal pigment epithelial (RPE) cells which help the light sensitive photoreceptor cells work. RPE cells with the PRPF31 mutation don’t function normally.
The researchers found that that EVs from the RPE cells, which are released naturally, carry genetic information from the cell’s RNA that reflect their health. In other words, the EVs from the mutant cells contain specific RNA molecules linked to cell damage and degeneration due to IRD. Because EVs travel throughout the body, their RNA makeup could serve as a “fingerprint” of disease progression, making them a promising tool for diagnosing and monitoring the disorder.
“This research could lead to new methods for tracking inherited retinal disorders and assessing the effectiveness of experimental new treatments,” said lead study author Marcela Garita-Hernandez, PharmD, PhD, of the Ocular Genomics Institute.
Other Mass Eye and Ear co-authors included Heran Getachew, PhD, Sudeep Mehrotra, MS, Tarandeep Kaur, PhD, Rosario Fernandez-Godino, PhD, MSc, and Eric A. Pierce, MD, PhD.
Read more in Molecular Therapy: Methods & Clinical Development.
