Stem cell research provides new insight

Researchers from the University of Edinburgh examined how changes in the RPGR gene lead to X-linked retinitis pigmentosa


Scientists have investigated changes in the RPGR gene that cause X-linked retinitis pigmentosa (XLRP).

In the study, which is published in Nature Communications, University of Edinburgh researchers took skin samples from two patients and transformed stem cells into photoreceptors.

They compared these cells with cells from the healthy relatives of patients.

The photoreceptors produced by stem cells from XLRP patients had fundamental structural differences when compared to those produced by healthy controls.

Subsequent studies in mice identified molecules that interact with RPGR to maintain the structure of the photoreceptors.

Lead author, Dr Roly Megaw, said: “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.”