Had my skype appt with Dr C last night regarding my mutation report from 23andme results. These are the main bits that he felt needed attending to
CYP1a1, 1A2 --Phase 1 detoxification in the liver, which impair clearance of Estrogens, Xenobiotics (foreign chemical substance-like metals)
GPX1, GSTP1--Decreased ability to use glutathione to neutralize toxins
COMT-Decreased Cathechol-O-methyltransferase activity-
this enzyme is used to break down catecholamines in a normal, heatlhy fashion. Cathecholamines are adrenali, norepinephrine and dopamine. If you don't clear this normally, they PERSIST and exert their stimulatory effects for longer than is normal
Decreased COMT activity also impairs Phase II detoxification in the liver. Phase II is where toxins etc are attached to things like Glutathione, Suflate, Glycine or Glucuronic Acid.
COMT SNP's can be worsened by excess methyl donors
GAD1- Decreased ability to make GABA, an inhibitory/calming neurotransmitter. There are 3 main places where GABA has high expression: Basal Ganglia, Cerebellum and Pancreas. People with low GABA are really prone to anxiety, worry and an overly high firing Brain. But can also show problems with hyperactivity, balance, coordination, car sickness
NRC31--Abnormal receptor for Cortisol. This can lead to chronic fatigue, high cortisol and side effects from high cortisol (decreased memory, trouble going to sleep, insulin resistance)
VDR-Abnormal receptor for Vitamin D - you could have normal levels, but not benefit form those normal levels. In addition, these SNPs can be made worse by excess Methyl donors.
BCMO1-Decreased levels of Vitamin A. Vitamin A is very important for the health of epithelial tissues (skin, GI tract, Respiratory tract); also for retinal and macula health in the eye; normal function of thyroid hormone receptor.
SOD2, SOD3--Decreased levels of Superoxide Dismutase 2, which protects your mitochondria (energy power plants in every cell) from being damaged
You are heterozygous C/A for the MTHFR A1298C SNP – which can mildly elevate homocysteine
Perque Activated B12 Guard
Apex Ultra D 5000
Pre-formed Vitamin A such as Klaire Micellized Vitamin A
Biotics Mn-zyme (manganese)
The NRC31 gene regarding my cortisol explains a lot. I have an abnormal receptor hence my anxiety from my high levels. He didn't quite explain how to correct my levels apart from a low carb diet.
My GAD1 gene also confirms decreased inability to make GABA which also explains my poor mental health. My glutamate is high which is the stimulating one and my GABA low which is the calm one
My half hr appt was over in a flash and not sure what to make of him to be honest, it was all so rushed; no time for me to ask any questions, just here are the results and this is what I want you to take. It's only the second skype appt I have had with him since June although he will answer all my emails to him. He obviously didn't review my case file properly before our skype because he asked me to mail him as to what supplements and meds I am taking even though he already has that info. He also has copies of all my test results on everything. I know he is busy but I am not sure whether to find someone else who can give me the time I think I deserve. Don't get me wrong he is very knowledgeable but just packing me off with more supplements instead of properly talking to me about symptoms and stuff, I don't think is the way to go.
Not sure what to do now Just when I thought I was going to get some proper help I am not so sure I did. I just feel like a number rather than a patient