NIH researchers develop first stem cell model of albinism to study related eye conditions
Researchers at the National Eye Institute (NEI) have developed the first model of patient-derived stem cells to study eye conditions related to oculocutaneous albinism (OCA) and published them in the January issue of Stem Cell Reports. OCA is a collection of genetic disorders that affects pigmentation in the eye, skin, and hair due to mutation in the genes crucial to melanin pigment production.
In the eye, pigment is present in the retinal pigment epithelium (RPE) and aids vision by preventing light scattering. The RPE is located next to the eye’s light-sensing photoreceptors and provides nourishment and support. People with OCA lack pigmented RPE and have an underdeveloped fovea, a crucial area within the retina for central vision. The optic nerve carries visual signals to the brain. People with OCA have misrouted optic nerve fibers. To make the model, researchers reprogrammed skin cells from individuals without OCA and people with the two most common types of OCA (OCA1A and OCA2) into pluripotent stem cells (iPSCs). The iPSCs were then differentiated into RPE cells. The RPE cells from OCA patients were identical to those from unaffected individuals but displayed significantly reduced pigmentation. The researchers will use the model to study how lack of pigmentation affects RPE physiology and function.
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