Science, Space and Technology News 2024
Researchers at Johns Hopkins Medicine have identified how a specific mutation in the rhodopsin gene causes congenital stationary night blindness by producing abnormal electrical noise that desensitizes retinal cells responsible for night vision. Their findings could lead to targeted treatments for this condition, which has puzzled scientists for 30 years.
These electrical events could help scientists better understand how the eye’s rods and cones function, says King-Wai Yau, Ph.D., professor in the department of neuroscience at the Johns Hopkins University School of Medicine.The research was led by Yau and postdoctoral fellow Zuying Chai. Besides the unusual electrical noise, rhodopsin is known to produce another type of electrical activity called spontaneous thermal isomerization, in which the thermal energy inside the rhodopsin molecule triggers rhodopsin to activate at random. Contrasting the observed unusual electrical activity, the spontaneous isomerization of G90D rhodopsin demonstrated a high amplitude but low frequency.
This enabled the researchers to distinguish between different types of activity produced in mice with the G90D mutation as if little or no equivalent background light were present.
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