One of these undesired results is schizophrenia, which may be linked to changes in a certain calcium channel encoded by the CACNA1C gene, which may well be an interesting, druggable target.
One of these regulatory mechanisms is alternative splicing. So, the CACNA1C gene exists in the heart and the brain, but different isoforms exist in either organ, thanks to all of the different exons within the gene that can give rise to similar proteins with different functions.
The problem with this in the era of genome editing is that, while removing schizophrenia, a change in DNA sequence in the CACNA1C gene might also cause the heart to malfunction.
On the one hand, it is possible that we can better understand all of the different isoforms of CACNA1C and where they appear, so that we can perhaps target only those versions that appear linked to schizophrenia in the brain while the versions expressed in the heart remain unaffected.
On the other hand, it is clear that we still have much to discover when it comes to alternative splicing, and that editing genes may have umpteen unknown consequences we have yet to discover.
Thanks for the summary!!! It’s all very interesting. I think we are on the brink of better treatment and understanding. We just need that lightbulb moment when someone figures something out!
