New gene linked to blindness and Parkinson's disease
 

The findings, published online October 24 in The Journal of Biological Chemistry and supported by grants from the National Institutes of Health, provide a tantalizing genetic link between a multifunctional protein, called Ranbp2, and death (degeneration) of the RPE and Parkinson's disease.

The retinal pigment epithelium (RPE) is a tissue, which lines the back of the eye. Aging, environmental (toxic) insults and genetic predispositions contribute to the death of RPE cells in diseases, such as age-related macular degeneration (AMD) and retinitis pigmentosa (RP), that ultimately lead to severe visual impairments or blindness.

The RPE also produces L-Dopa, an intermediate chemical compound required for the production of a chemical substance, called dopamine, which is crucial for the communication of certain specialized cells of the brain, called the dopaminergic neurons. When these neurons begin to die widely, because of aging and genetic predispositions, patients develop Parkinson's disease


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