The following two mutations are ones that are likely related to my mitochondrial disease:
- Courtagen found a mutation in the CHAT gene (choline O-acetyltransferase). Dr. Boles said my genetic variant in CHAT might contribute to the complex disease picture in (me).
- The second mutation was found in the TRAP1 (TNF receptor-associated protein 1) gene. My genetic variant is in the ATPase domain of the protein. These mutations are thought to “predispose towards disease due to defects in antioxidant defenses.” People who have variants like these have chronic fatigue, pain (now I know why I have Complex Regional Pain Syndrome! :), and G.I. dysmotility. And I deal with those three symptoms..
Dr. Boles said CHAT mutations respond favorably to anticholinergic esterase inhibitor treatment, and he also wrote that TRAP1 mutations can respond favorably to aggressive antioxidant therapy. That’s great news!
In addition to the GARS and RYR1 mutations that were found, I mentioned in Part 1 that Courtagen found 19 other possible disease-causing mutations. This makes my case even more challenging.. I know I’ve said that before, but just in case you forgot.. 😉 I could possibly have a polygenic disease from multiple variants combined.
So in order to figure out what variants are likely causing my “disease,” Dr. Boles wants my mom and dad to be tested. Courtagen is sending saliva kits to my parents, and their tests will be completely free of charge. 🙂 This laboratory is amazing! Their tests will help Dr. Boles with my test interpretation. This is going to take another 5-6 weeks.. My patience sure is being stretched.. lol
So in the meantime, stay tuned! 🙂 We’re SLOWLY BUT SURELY making progress!
One of my friends shared this quote with me recently, and I thought it was just perfect!!