Question

The OPN1LW gene codes for a key part of the rhodopsin protein which enables it to detect color. Mutations in this gene cause red-green color vision defects because the rhodopsin protein is no longer able to detect light at these wavelengths. Describe how you could potentially correct this mutation? Describe what molecular technique you would use, how this would fix the mutation, and any repair pathways inside the cell that you would harness.

Answer 1

This mutation of the OPN1LW gene can be corrected by CRISPR Cas 9 technique where the mutated base pairs can be accurately replace with the base pairs that are present normally in this gene. This can be done by generating the appropriate guide RNAs to replace the base pairs, thereby generating a normal OPN1LW gene. This gene is corrected by generating this normal gene invitro and then introducing it into the host cell which has the gene mutation. Thus correcting the signalling pathway a little bit and also the efflux of calcium ion into the cells can be stopped by over expressing the PDE enzyme in the cell membrane. Normally in rhodopsin light signalling when rhodopsin is excited by light it activates the PDE enzyme which enables the closure of the sodium-calcium channels. Hence by overexpressing PDE enzyme even with little activation of rhodopsin the cell will be able to show normal levels of activity equivalent to the normal individual.

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