The researchers took skin samples from two patients with the incurable condition – which gradually causes blindness – and used th to transform st cells into photoreceptors.{{quote-A:R-W:500-I:2-Q: By furthering our understanding of the RPGR gene and its effects on photoreceptor cells, we hope our findings bring us closer to developing a possible treatment for this devastating disease, -WHO:Dr Roly Megaw, Study lead}}They then compared these with cells from healthy relatives of patients and found they differed in their fundamental structure.The RPGR gene is responsible for the creation of a protein essential for normal vision and plays an important role in cell structures called cilia. These microscopic finger-like projections are present in many types of cells, and are involved in cell movent and chical signalling pathways.Follow-up studies in mice identified key molecules that interact with RPGR to maintain the structure of photoreceptors. When RPGR is flawed, the structure is compromised and photoreceptors cannot function correctly, leading to sight loss.“By furthering our understanding of the RPGR gene and its effects on photoreceptor cells, we hope our findings bring us closer to developing a possible treatment for this devastating disease,” study lead Dr Roly Megaw said.The study was published in Nature Communication.
Fred Hollows Foundation helping to raise eye health at UN
Significant progress has been made to elevate eye health as a development issue at the United Nations. And the Fred...
