How is Syngap1 gene when Working Mutated Fixed Boosted ?
Find out on which methods the Syngap1 researchers work on
Baseline - Fully working Syngap1
A working Syngap1 Gene is producing Syngap1 protein.
The Chromosome 6 pair is generating 50% + 50% of the protein for a total of 100%.
Mutation - Mutated Syngap1 Haploinsuficiency
The situation that occurs when one copy of a gene is inactivated or deleted and the remaining functional copy of the gene is not adequate to produce the needed gene product to preserve normal function.
Only 50% of the syngap1 protein is produced.
Alternative mutated protein may be produced but this is not useful to cover for the missing Syngap1 protein.
Repaired Fully fixed Syngap1 mutation
Repairing the mutation may sometime be possible (highly dependant on the type of mutation).
Such fixing would allow to have a fully working second copy of the gene and thus get 100% of Syngap1 protein created.
Mutation fixing may be achieved by using CRISPR9 method in the future.
The main challenge is that most of the mutation are different which means all of the fixes will have to be different (like creating a specific treatment for each mutation).
Another challenge is that the fix is permanent and if the fix applied is bad, it can have very bad consequences.
Boosted - Make the working chromosome produce twice as much
We may be able to boost the production of the working chromosme.
As the working chromosome is the same for every human, if a boost mechanism is found, it should work for everyone irrespective of the mutation.
This boost may be triggered via ASO and would be temporary (quarterly spinal tap). This would allow to revert back to previous state if the treatment does not work as expected.
Regulated- Changed expression regulation
A working Syngap1 Gene is producing Syngap1 protein.
A chromosome is generally producing more than the 50% required and an automated mechanism is dropping what is on top of the 50%.
Removing this regulation may allow the working gene to produce syngap1 protein and avoid surplus to be dropped.
This regulation change may be triggered via ASO and would be temporary (quarterly spinal tap). This would allow to revert back to previous state if the treatment does not work as expected.
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