SLC25A12 encodes “Aralar” which is a mitochondrial calcium-regulated aspartate-glutamate carrier that is found in the brain and skeletal muscles. These carriers play an important part in the malate/aspartate shuttle, which is crucial to supporting oxidative phosphorylation and ATP production…
I have an 12 year old boy ( my son) who we have been working with since last March for a PANS picture but now in remission but appears to me some other issue as he does have this SNP.
Clinically doing well much less anxiety but appears to have ( even before the PANs but we were not sure what was going in or if it was pathologic) a deterioration in mental capacity and increased fatigue when faced big stressors or increased physical or emotional stressor.
So to me I think what is going on in mitochondria since it looks like an energy issue so I took another look at his Intellxx DNA report and focused on this. Looking at the NADH/NAD and Citric acid cycle and trying to understand this.
Cellular medicine has taught me to keep digging so I am digging no settling on this one.
I may go back to NAD mastermind ad register to lectures.
Id love @drseeds thoughts on this too .
Thoughts and interventions appreciated.
Thank you
Beth
