Greater understanding of genetic risk factors for age-related macular degeneration
Identifying the tiny changes in DNA that might be causing disease is like trying to spot a single typo in a whole book. Figuring out how that change is having an impact is even harder. Researchers taking up this challenge for adult macular degeneration – a leading cause of blindness – focussed on cells in the eye called the retinal pigmented epithelium (RPE). They explored a protein called LHX2 (red in the composite image of mouse eye structures and lab-grown human cells) that influences gene expression in the RPE. Without LHX2, protein production dropped overall, and by mapping where LHX2 and another related protein (green) bind to DNA, they managed to pinpoint key genes involved in adult macular degeneration. Variation in the DNA influences how well LHX2 can bind, altering important gene expression and revealing details of macular degeneration risk, and potentially steering future research into new treatment approaches.
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