ACTN3 (alpha-actinin-3) the sprinter gene and MG diagnosis and living with
 

I have not searched much, so I don't know if research exists on this already. I would love to hear from anyone who knows anything related to this topic, I am very curious about this.

Firstly I am not diagnosed with MG. I suspect I have it. More on that later.

I got basic genetic testing done through 23andme and learned that I have "Two working copies of alpha-actinin-3 in fast-twitch muscle fiber. Many world-class sprinters and some endurance athletes have this genotype." Some people only have one copy and they are still in the category of "many world-class sprinters", and I guess most people have no copies of this gene thing.

I've always felt like I had this ability to "push" myself into a mode where I am much stronger. It feels different, and I always wondered if it was something that other people didn't have the ability to do... so I think it's the ACTN3.

Another thing is, many months ago I read this online "book" by a guy with MG... I don't remember the website now, and maybe someone here knows who I'm talking about. The guy was possibly named Clyde or some name starting with C but my memory is bad. Anyway the man passed away but his son was keeping the website up.

Well plenty of what he wrote really struck a chord with me. He said his own hypothesis was that many (or all) MG people had that ability to push through. I forget how he explained it, I thought his explanation was good enough for average people to understand, but I guess people on this forum will know what I mean.

One thing I am really wondering is if my ACTN3 thing would get in the way of electromyography diagnosis or other diagnosis. I feel like it would for most tests. (I'm not that sure I have MG but I know I have something with symptoms that are similar.) I read some article(s) by an MG expert who was saying lots of MG people are slipping through undiagnosed.

I would also like to hear from anyone with MG who knows they have one or two copies of this ACTN3. I think MG with it would be different than MG without. On the one hand I feel like the ACTN3 part kicks in and "compensates" but yet I feel like it's adding to the problem because when it kicks in, it's really burning energy or otherwise straining a body. I feel like if I did not have the ACTN3 then I would have been forced to seek medical help and that docs could have observed the problem and so on.

I hope some of this makes sense to somebody!

this is very interesting
 

antibodies to this protein have been described in myasthenia.

why did you have genetic testing?

Meaning that the ACTN3 thing means I don't have MG for sure? Or the opposite or neither? I saw something about this but don't understand.

23andme is something many people get done, it's promoted to individuals, I did it out of curiosity, some people said it was interesting and worth it.

how and why autoantibodies are produced is not yet fully understood. but, we do know that there are certain proteins that may be more prone to be recognized as non-self, by the immune system.

so, production of autoantibodies is probably a combination of the genetics of the individual's immune system, combined with the genetics of the proteins to which those antibodies are directed.

I can't comment on if you do or you don't have myasthenia, according to my oppinion, as I have no data to base this on. eg-what your symptoms are, what tests you had, etc.

all I can say is that it is becoming more and more clear that myasthenia is not just one disease, in which there is an abnormality of the acetyl-choline receptor and abnormal electrical signaling in the neuromuscular junction, but it is much more complex then that.

alice