Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies

Life, Год журнала: 2025, Номер 15(3), С. 395 - 395

Опубликована: Март 3, 2025

The CYP1B1 gene encodes a cytochrome p450 monooxygenase enzyme, and over 150 variants have been associated with spectrum of eye diseases, including primary congenital glaucoma, anterior segment dysgenesis, juvenile open-angle glaucoma. Clinical genetics has yielded insights into the functions various domains; however, animal studies are required to investigate molecular role in eye. While both zebrafish mice express developing eye, embryonic shown disparate species-specific functions. In zebrafish, regulates ocular fissure closure such that overexpression causes remarkable phenotype consisting absence posterior wall. Adult null lack an but show mild craniofacial abnormalities. contrast, CYP1B1−/− display post-natal severe trabecular meshwork degeneration due increased oxidative stress damage. Interestingly, retinal ganglion cells may be more susceptible damage secondary intraocular pressure. Future studies, detailed genotype–phenotype information work elucidating regulation, substrates, downstream effects CYP1B1, will yield important for molecularly targeted therapies aim prevent vision loss CYP1B1-related diseases.

Язык: Английский

Applying nanotechnology to glaucoma therapy: past, present, and future

Nanomedicine, Год журнала: 2025, Номер unknown, С. 1 - 3

Опубликована: Апрель 25, 2025

Язык: Английский