Guest guest Posted September 8, 2005 Report Share Posted September 8, 2005 Barbara, Of course I would have prefered that it was a definative test result, but I want the truth. I guess I'd better accept I'll need to go to Atlanta. At least it'll probably represent the end of testing. Hopefully it'll mean a diagnosis too. Thanks for the info. Kim > Hi Kim, > > You've already gotten a lot of replies and they fit my experience. Athena > screens for certain known mitochondrial mutations. A negative result does > not rule out mitochondrial disease, it only means that you do not carry any > of the specific mitochondrial mutations in the Athena list. Your doctor > should have explained this to you when he gave you the test results. > > Most labs have certain mutations that their technicians are trained to > screen for, and this list is limited and in no way includes all known > mitochondrial mutations. Usually a lab like Athena will screen for the most > common known mutations. > > In addition to this list of more common mutations, there are many other > known mutations that were not included in your screening. No one lab screens > for every known mitochondrial mutation. And beyond the known mutations, > there are many mutations that have not yet been discovered. > > Mito science is in its infancy, which means genetic screening may, in a few > cases, hit the jackpot and find the specific mutation that is causing the > patient's symptoms. But in most cases, this doesn't happen. There are simply > too many mitochondrial mutations that have not yet been discovered and are > not even in the lists for screening. To make it even more difficult, some > mutations can be private, that is, they are found only in one family. > > In our family, researchers did find the causative mutation for our CPT > deficiency, R503C, but it was a new one at that point (1998) and was first > found in our family. Three people in my family carry it and they have since > found it in one other family. Screening for common CPT mutations turned up > nothing because we don't have the more common mutations. > > Those who want to read further about genetic screening in the diagnosis of > mitochondrial respiratory chain disorders might be interested in this > article. Two excerpts below. > http://www.rgbgl.org/research/respiratorychain.htm > > Barbara > -------- > > Genetic testing for mitochondrial disorders: > " I predict that only in a minority of cases will we be fortunate enough to > find a single gene defect (mitochondrial DNA or nuclear DNA) that is > causative. In fact, in a published study of 2,000 specimens referred for > mtDNA mutation analysis, Dr. Lee-Jun Wong's laboratory found a causative > mutation in under 7%. This ballpark yield in large-scale studies has been > echoed in at least 2 other laboratories. " > > Supplements and biopsies: > " We have had the opportunity to study a handful patient biopsies before and > after the patients received vitamin/cofactor therapy. The enzyme activities > were generally higher during therapy compared with being off therapy. I > always recommend that patients not be on cofactor therapy at the time of > biopsy if possible. At the very least, if they are on cofactors I would like > to have that information and may factor it into my interpretation of the > quantitative data. " > > > > athena mito results > > > > Hi, I got my results from Athena for the mitochondrial genetic tests. > > They were negative. I assume that rules them out. Have any of you > > had them turn out negative, then had a biopsy say otherwise? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 8, 2005 Report Share Posted September 8, 2005 The other abnormalities you mentioned on your biopsy may lead to a diagnosis also. I hope they go ahead and do electron microscopy studies and follow those leads. I sure wish there was some way to shorten the agony of getting a diagnosis, but I'm afraid it is often like this. Just don't give up. There is an answer! Hugs, Barbara > Re: athena mito results > > Barbara, > Of course I would have prefered that it was a definative test > result, but I want the truth. I guess I'd better accept I'll need > to go to Atlanta. At least it'll probably represent the end of > testing. Hopefully it'll mean a diagnosis too. > Thanks for the info. > Kim > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 8, 2005 Report Share Posted September 8, 2005 Some of the other abnormalities point toward centronuclear / myotubular myopathy too. There was varied cell size, and abnormal internal arcitechture, and some other stuff. I imagine these things show up in other diseases also. It's crazy how complicated it is. Kim > The other abnormalities you mentioned on your biopsy may lead to a diagnosis > also. I hope they go ahead and do electron microscopy studies and follow > those leads. > > I sure wish there was some way to shorten the agony of getting a diagnosis, > but I'm afraid it is often like this. Just don't give up. There is an > answer! > > Hugs, > Barbara > > > Re: athena mito results > > > > Barbara, > > Of course I would have prefered that it was a definative test > > result, but I want the truth. I guess I'd better accept I'll need > > to go to Atlanta. At least it'll probably represent the end of > > testing. Hopefully it'll mean a diagnosis too. > > Thanks for the info. > > Kim > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 8, 2005 Report Share Posted September 8, 2005 Very complicated. Mind-boggling, really. Some of these abnormalities can be found in a number of different muscle diseases, but at least they do confirm that you have muscle disease of some sort. Hopefully that will keep the docs looking until they find The Answer. B > Re: athena mito results > > Some of the other abnormalities point toward centronuclear / > myotubular myopathy too. There was varied cell size, and abnormal > internal arcitechture, and some other stuff. I imagine these things > show up in other diseases also. It's crazy how complicated it is. > Kim Quote Link to comment Share on other sites More sharing options...
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