The study, published in the Proceedings of the National Academy of Sciences, found that the G90D mutation in rhodopsin produces unusual electrical “noise” in the background. This noise “disrupts” the eyeballs responsible for night vision, leading to CSNB.
The study, led by King-Wai Yau and Zuing Chai, used the G90D low-level rhodopsin expression model in mice. This allowed the team to identify the mutation’s high-frequency, low-amplitude electrical activity as the main factor causing night blindness.
Interestingly, although G90D also triggers spontaneous thermal isomerization, such electrical activity has no significant effect on rod function. The findings point to new targets for therapeutic interventions and pave the way for further research into other rhodopsin mutations associated with night blindness.
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Source: Ferra
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