Important insights into the mechanisms behind Fuchs’ endothelial dystrophy (FED), a common cause of age-related visual loss, have been revealed in a study led by University College London (UCL).
The study, published in eBioMedicine,1 provides hope for future therapeutic developments, and finds implications for other neurological diseases.
FED is a common, inherited eye condition that affects corneal endothelial cells, leading to blurred vision. It is the most common reason for corneal transplants in high-income countries.
The research revealed how FED progresses at a molecular level, highlighting the importance of understanding genetic instability – when cells have high frequency of mutations – in developing new treatments.
The study used advanced optical genome mapping with single-molecule precision.
The study used advanced optical genome mapping with single-molecule precision.
Lead author Dr Christina Zarouchlioti said the study’s implications extend beyond FED, positioning it as a valuable model for understanding a growing number of other diseases, such as Huntington’s disease and myotonic dystrophies, which share similar mechanisms.
Reference
1. Zarouchlioti C, Efthymiou S, Davidson A, et al. Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping, ebioMedicine. 2024, Sept:108;105328. doi: 10.1016/j.ebiom.2024.105328.
