Mouse Model of Degenerative Eye Disease Produced

May provide insight into pathogenesis of human disease

MONDAY, Jan. 16 (HealthDay News) -- Mice lacking a gene affecting cellular trafficking develop progressive retinal degeneration similar to humans with choroideremia (CHM), an X-linked eye disease leading to blindness in males, according to a study published online Jan. 12 in the Journal of Clinical Investigation.

Miguel C. Seabra, M.D., Ph.D., from Imperial College London, U.K., and colleagues generated mice lacking retinal pigment epithelium 1, a protein involved in lipid modification of enzymes that regulate intracellular vesicular transport and organelle dynamics.

The mice developed the hallmark features of CHM, including progressive photoreceptor degeneration. This occurred independently of the degeneration of the retinal pigment epithelium, contrary to what had been previously thought. The mice also had variable depigmentation of the retinal pigment epithelium, the researchers report.

The mice "are a valid model for CHM and will be used for further studies of the disease pathogenesis and for future gene therapy trials," Seabra and colleagues conclude.

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