Clinical Epigenetics · 15 authors, 4 centres
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Researchers created a transgenic mouse model with a retinal-specific deletion of the *Mtr* gene to study cblG-type retinopathy. The model showed delayed eye opening, reduced visual acuity, and widespread DNA methylation changes in genes important for eye development and cone cell function.
This study developed a conditional knockout mouse model (*Mtr*-cKO) with deletion of the *Mtr* gene in retinal tissue to investigate the ocular pathology of cblG, an inherited disorder of vitamin B12 metabolism. At postnatal day 21, *Mtr*-cKO mice exhibited a dramatic decline in the retinal SAM/SAH ratio, delayed eye opening, and slightly reduced visual acuity. This was associated with decreased expression of the visual cycle genes *Lrat*, *Rpe65*, and *Rdh5*, and a significant reduction in cone photoreceptor cells. The study establishes this mouse model as a valuable tool for preclinical research into the epigenetic mechanisms of cblG retinopathy, suggesting impaired retinoid metabolism and cone development as key pathological features. Limitations include the investigation at a single early timepoint and the lack of direct lens or optic nerve analysis.
