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Dual pathways of pathogenicity elicited by a common triplet repeat expansion disease.
An intronic CTG triplet repeat expansion in the transcription factor gene TCF4 frequently underlies a common age-related corneal disease called Fuchs endothelial corneal dystrophy (FECD). This image depicts two distinct mechanisms of downstream pathogenicity in affected corneal endothelial cells elicited by the repeat: TCF4 isoform dysregulation on the left as visualized via RNAScope staining (white puncta), and toxic repeat-containing RNA foci on the right visualized via fluorescence in situ hybridization (red foci). See Bhattacharyya et al. Download May’s cover page.
Image Credit: Nihar Bhattacharyya