![]() 5 Instead, they used a monolayer method which resulted in the obtaining of the RPE cells 40 days later, a timeframe in line with human fetal RPE cell development. ![]() The researchers’ strategy for differentiating the RPE cells is unique as other protocols that have been recorded have used the embryoid body differentiation method to get the RPE from embryonic stem cells. These stem cells are further differentiated to generate RPE (iRPE) monolayer cells. In this study, the cells were taken from normal subjects as well as from patients with OCA1A and OCA2 and they were then reprogrammed into iPSCs. Thus, the researchers wanted to study the abnormalities during the genesis of melanosomes and melanins in the RPE of patients with OCA as they think the RPE plays a crucial role during the formation of the melanosomes. However, there has been no degenerative effects seen in the RPE of OCA patients, despite the role of melanosomes which are melanin-containing organelles responsible for the pigmentation of mammalian hair and skin. The RPE of individuals with OCA lack pigments and suffer from defects in their foveal development which leads to reduced visual acuity, especially in the area of their central vision. The genes linked to OCA are expressed at low levels in the neural retina during development and adulthood, but are substantially expressed within the retinal pigment epithelium (RPE). Thus, patient-derived iPSC lines can be a reliable source of human tissue that would otherwise be difficult to come by. 2 There is no available treatment for all forms (8 subtypes) of OCA, which is one of the oldest genetic conditions around. OCA1A and OCA2, caused by mutations in the tyrosinase protein (TYR) and P GENE/OCA2 genes respectively, are the two most common and severe forms of OCA forms in North America.Īffected individuals show different levels, from having none to little pigmentation, which increases their risk for skin cancers and negatively affects their visual acuity. Using patient-derived induced pluripotent stem cells (iPSCs), researchers from the National Eye Institute (NEI) generated a “disease in a dish” model to investigate how defects in the eye’s pigmentation might affect the structure and functionality of the RPE. ![]() The first ever human-derived stem cell model for studying oculocutaneous albinism (OCA) type 1 and 2 has been developed - and this breakthrough paves the way toward more studies to develop potential therapeutics to treat the condition.
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