Genes and Anesthesia
Understanding genetic mutations that put you at risk for complications.
Hey everyone,
The new article for this week is at the request of a PRO member who wanted to know about the rare mutations linked to malignant hyperthermia, a rare but serious reaction that can occur in some people after receiving inhaled anesthesia during surgery.
Anesthesia carries risks. Complication rates range from 3-16%.[ref] However, these complications are usually dealt with quickly. The death rate from anesthesia is now very low, with only a few hundred deaths in the US each year.[ref]
One serious complication is malignant hyperthermia, which is caused by a genetic mutation that affects the way that calcium channels work in the muscles when exposed to inhaled anesthesia drugs. Without intervention, it can be deadly.
About 1 in 2,000 people carry a genetic mutation that can cause malignant hyperthermia, but the rate of serious complications in anesthesia from malignant hyperthermia is low.
A couple of caveats on rare mutations:
AncestryDNA, 23andMe, etc are not guaranteed to be clinically accurate; errors are possible.
Not all of the mutations are covered, so you can't rule out a rare mutation.
The two most common genetic mutations linked to malignant hyperthermia are covered in consumer DNA tests like 23andMe and AncestryDNA. I recommend checking your raw DNA data for these mutations. If you carry a mutation, let your doctor know before any future surgeries requiring anesthesia. They can take precautions and double-check your results with other tests.
Also below is an article on the BChE gene. Mutations in BChE can cause problems with recovery from succinylcholine, a muscle relaxant used in anesthesia. Again, something to check and talk about with your doctor before having surgery.
Knowledge is power here. When having surgery, the anesthesiologist can make changes and be prepared to reduce the risk based on your genes.
Coming next week: I'm currently finishing up a deep dive into tetrahydrobiopterin (BH4), a cofactor for the production of neurotransmitters and nitric oxide.
With gratitude,
Debbie
In case you missed this announcement last week:
For my non-member newsletter readers, I wanted to let you know that I am making some changes to the website. Most of the genotype reports are now going to be viewable only for logged in members.
This decision was made, in part, to cut down on the AI bots scraping my site and taking all of my content.
New articles will remain open for non-members to read in full only for the first week they are published.
New articleMalignant hyperthermia: RYR1 gene mutations and anesthesia
Key takeaways:
~ People with mutations in the RYR1 gene may be susceptible to malignant hyperthermia.
~ Malignant hyperthermia is a severe reaction to inhaled anesthesia, which can be fatal if not promptly recognized and treated.
BChE gene: Nightshade sensitivity, Anesthesia risk
Butyrylcholinesterase (BChE) is a cholinergic system enzyme that acts on the autonomic nervous system, which regulates processes such as blood pressure and breathing. But the BChE story is more than just autonomic function, and this ancient enzyme has some fascinating links to modern health issues.
This article explains what BChE does and how genetic variants can cause a deficiency. Best known for negative reactions to anesthesia, BChE deficiency can also lead to seemingly unconnected consequences, such as an increased risk for Parkinson’s or food sensitivity to potatoes.
What I've been reading:
This small clinical trial compared a calorie-restriction diet to a protein-restriction diet that didn't reduce calories. The trial was done using people with metabolic syndrome. The results showed similar improvements for metabolic dysfunction after 4 weeks. Protein restriction improved insulin sensitivity by 93%, which was about 30% more than calorie restriction.
I found this interesting, but not because I think everyone needs to go on a low-protein diet. The long-term effects of a low-protein diet should be considered. However, this new study reminded me of previous animal research that targeted specific amino acids, such as methionine restriction, for improving metabolic health, as well as the Cell Metabolism paper on very low protein diets not causing rebound weight gain.
2. Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging
If I understand this study correctly, chronic stress uses up a lot of cellular energy. And chronic exposure to cortisol accelerates cellular aging.
My takeaway: The biggest 'lifehack' for healthy aging is to decrease chronic stress. I should get off Twitter, stop worrying about the news, and go for a hike this evening.