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genetic mutation
Hello to the entire community,
Hope everyone is doing as best as humanly possible.
Just wanted to share with all about my recent visit to a very good neurologist in my area of Summit County in Ohio and what I found out from the tests I had. Hope this may help some of you and I am by no means suggesting anything to anyone. I'm just sharing what is going on with my case.
The neurologist ordered a lip biopsy and a genetic blood test. The lip biopsy was negative. However, the genetic blood test showed a mutation in the SCN9A gene. Below is a short summary from the internet of what the gene is: and changes to it:
“The SCN9A gene provides instructions for making an alpha subunit of a voltage-gated sodium channel called Nav1.7. This channel is mainly found in peripheral nerve cells that transmit pain signals (nociceptors) and smell signals (olfactory sensory neurons)”.
“The SCN9A gene is altered or "damaged" by genetic mutations (inherited DNA changes or spontaneous variants) rather than by external physical or environmental factors like toxins or trauma.
Types of Genetic Mutations Affecting SCN9A
The SCN9A gene provides instructions for making the voltage-gated sodium channel, which is found in peripheral pain-signaling neurons. Changes to this gene fall into two main categories:
* Gain-of-Function Mutations:
* What happens: These missense mutations make the sodium channels hyperactive or prevent them from closing normally. This causes pain-sensing nerve cells (nociceptors) to fire too easily or continuously.
* Conditions caused: Primary erythromelalgia (severe burning pain and redness in the hands and feet) and paroxysmal extreme pain disorder (PEPD). These are typically inherited in an autosomal dominant pattern (meaning one copy of the altered gene from a parent is enough to cause symptoms).
* Loss-of-Function (Null) Mutations:
* What happens: These nonsense or truncation mutations completely disable the channels, stopping them from forming or functioning properly so that pain signals cannot be transmitted.”
And yes it can cause neuropathy.
The doctor prescribed an epilepsy medication with the lowest dose and it also work on the mutation. I didn’t start it yet as I am waiting for an answer from my PCP to see if I can take it due to its adverse drug reactions or side effects.
Suggested added links from Mr. John Bishop:
-- SCN9A gene - sodium voltage-gated channel alpha subunit 9: https://medlineplus.gov/genetics/gene/scn9a/
-- Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders: https://pmc.ncbi.nlm.nih.gov/articles/PMC2096434/
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@gus0557, Thank you for starting this discussion and sharing more about your neuropathy journey and the genetic connection you found with the SCN9A gene. In case you want to learn more about genetic testing, here's an FPN Webinar on neuropathy and genetic testing.
Tagging @margaret10 @emfm4me @srountree3006 @terlato and @mogden52 who have all mentioned the SCN9A gene in other discussions and may have other information to share.
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1 ReactionWow Gus, that's a lot to deal with. I hope you find some help for all of that. I have a genetic disorder, completely unrelated to yours. Mine in neuralfibromatosis type 1, which I inherited from my father. While it did not cause my neuropathy, it caused me to have back surgery to remove a fibroma on my spine, which in turn caused my neuropathy. Again, both totaly unrelated to your condition. I wish you the best and hope and pray that you find the help that you need.
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3 Reactions@insanepain
Hello,
Thank you so much for your message and I am sorry for what you went through and still are. Truly, there is so much wisdom hidden inside all that happens to us especially pain in the first place. Hopefully we are open to learn it.
I also wish you the very best.
Take care and have a serene day,
gus
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2 Reactions@johnbishop
Hello John,
Thank you so much for your message and the video you linked. I’m very happy to be part of the community and to be able to share my journey with everyone.
Take care and have a serene day,
gus
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2 ReactionsThank you. This is the first information I have seen that bodes well for future treatment of neuropathy now that a probable cause is known. It does seem that AI is helping hasten medical breakthroughs. Let’s hope this knowledge can lead to some relief for many people who experience neuropathy. I am so grateful to the docs and researchers who continue to look for answers. Sometimes it feels like “There’s no cure” or “nothing wrong/all tests are normal” or “ nothing we can do” are very hard to live with. This gives us some hope. Thanks again.
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1 ReactionVery interesting. My neurologist thinks I have erythromelalgia or small fiber neuropathy (SFN), either of which cause burning, stabbing, stinging, redness and numbness. There are 12 sodium ion channel genes, some of which are expressed in brain, some in peripheral nerves and some in a combination of both. My whole genome sequencing 4 years ago showed no mutation in coding regions of sodium ion channel genes. We now waiting for results for "long-read" sequencing which includes non-coding regions. Basically, there is a possibility of a mutation in a non-coding (e.g., intron) region of SCN9A or other SCN that causes a splicing error and a gain of function in the resuting protein, which in turn causes nerve hyperactivity and a lot of pain. It's a long shot. Theoretical treatment is antisense to suppress the splicing mutation and reducing hyperactivity. No one has yet done this as far as I know. Lucky for you (?!?), your mutation is in a coding region, and it may be possible to control the pain with an anticonvulsant like oxcarbazepine, carbamazepine or vimpat. If not, antisense may be a theoretical treatment for you. Best of luck, and may your pain not become so intense that you get overwhelmed.
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2 Reactions@parrot53
Hello,
Thank you for your reply. I’m not sure if AI had anything to do with my genetic test. I give the credit to the neurologist whom I saw recently and he ordered the test. I still have quite a bit to learn more about this as I am not sure now of what condition I currently have. I should get some answers soon.
I wish you the best.
Take care and have a serene weekend,
gus
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1 Reaction@margaret10
Hello,
This field of genetics is a world on its own and in it lies tons of answers the majority of which is still to be found. I’m about to send a message to the neurologist I am seeing to try and find more information about the mutation I have and what it can cause. I was given a medication you mentioned; however, I have not yet started it. I sent a message to my primary care physician to see if it’s ok for me to take since I have tried a number of medications including 2 you mentioned and had serious adverse drug reactions. My primary care physician told me to stop all medications February of last year. I am only taking 12.5 mg of a blood pressure medication and nothing else including supplements. I have to be very careful.
As for pain, there is infinite wisdom in it if we’re open to learn from it and not succumb to it.
I wish you the best always.
Take care and have a serene weekend,
gus
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1 Reaction@gus0557 I am so glad you found a neurologist who took the time and initiative to research your health issues. It is becoming more rare in this age when time is so measured and valuable. I was not implying that AI was used in your case although it is helping doctors and others research. I am just glad for you and us that this information is available and hope it becomes part of the answer for neuropathy sufferers. Have a wonderful day and again thank you for sharing.
@parrot53
Thank you for your reply and I can understand that you said. I am still trying to work through the genetic result to understand all its implications.
Again best wishes to you and have a serene weekend,
gus
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