I will go out on a limb here and attach an image of the results portion of Garrett's mtDNA test results in the even they can help anyone else in any way. Bottom line is that there was no conclusive genetic explanation for mito, but Garrett is a carrier for 3 variants of genes with autosomal recessive disease inheritance. We have yet to see Dr. Saneto, and he is not getting the results until Monday morning. It will be very interesting to hear his take on this as these 3 variants are possible to create really scary disease if they are passed along. Needless to say, our two daughters will need testing before they begin a family AND will need counseling from a geneticist.
I will say that the little internet research to see what these variants can cause if they are present in disease are SCARY.
My question is whether, even though these variants "shouldn't" cause disease, COULD they somehow allow Garrett to be experiencing the symptoms he has??? I know, probably not. But it is still worth knowing!!!
So check it out if it interests you, and I am open to ideas, sharing, my opinion, etc., if you want to research or have an y experience with these variants with your testing!!
Godspeed,
Clara-Leigh
We had similar results and were told by neurology that genetics usually says that disease is not caused by an AR gene but neurologists see it happen in patients everyday. I think Ly had 4 different variants show up on his and his gene deletion even contains a gene responsible for mito but its an AR gene so there's still no concrete answer. But there's no doubt we have a boy with lots of issues! Maybe it just isn't in the cards for us to ever know! Hugs and prayers!
ReplyDeleteHeterozygous means that he has one faulty copy and one working copy (one from mom, one from dad). If the inheritance is recessive, it means that only the working copy will be used, so the faulty one should not matter. Hope that helps.
ReplyDeleteAbby's from Courtagen came back, she has a lengthy list(a depletion found on biopsy too) but none are the same .. must unknown /novel.
ReplyDeleteI am hoping as more patients are tested they will figure it all out- sorry your testing did not give more clarity. We are trying to look at it as a good thing- means there might be other answers waiting to be found.