Discussion in 'General ME/CFS Discussion' started by RYO, Jul 14, 2014.
Has anyone been evaluated by a mitochondrial specialist - including genetic testing?
Here's a thread on Dr. Kendall in Atlanta. She's a geneticist who supposedly specialized in mito disease.
I think @Ema saw someone.
Supposedly being the key word!
I havent thou I suspect I do have some mito issue probably inherited due to various issues in my family eg my father had a hearing issue as a boy etc
Mitochondria are inherited from the mother. The sperm cell looses its tail (where its mitochondria are) before conception.
The old theory of that though has been changing and now they are saying fathers can play a part in passing on mito issues too (I was reading that not too long ago from a big mito disorder website).
"Over the last 5 years, there has been considerable debate as to whether there is recombination in human mitochondrial DNA (mtDNA) (for references, see Piganeau and Eyre-Walker, 2004). That debate appears to have finally come to an end with the publication of some direct evidence of recombination. Schwartz and Vissing (2002), 2 years ago, presented the case of a 28-year-old man who had both maternal and paternally derived mtDNA in his muscle tissue – in all his other tissues he had only maternally derived mtDNA. It was the first time that paternal leakage and, consequently, heteroplasmy was observed in human mtDNA. In a recent paper, Kraytsberg et al (2004) take this observation one step further, and claim to show that there has been recombination between the maternal and paternal mtDNA in this individual.
Some sources state that so little paternal mtDNA is transmitted as to be negligible ("At most, one presumes it must be less than 1 in 1000, since there are 100 000 mitochondria in the human egg and only 100 in the sperm (Satoh and Kuroiwa, 1991).") or that paternal mtDNA is so rarely transmitted as to be negligible ("Nevertheless, studies have established that paternal mtDNA is so rarely transmitted to offspring that mtDNA analyses remain valid..."). One study stated that about 1–2% of a person's mitochondria can be inherited from the father." http://en.wikipedia.org/wiki/Paternal_mtDNA_transmission
Science evolves and the exception confirms the rule.
I had not seen it before,
It doesn't sound like it was a worthwhile endeavor to see Dr. Kendall in Atlanta.
I am still waiting to see if I will be considered at NIH center for undiagnosed diseases. From their website, it sounds like my chances are slim and I am looking to formulate a back up plan.
There is a physician at Mass General - Dr. Katherine Simms. Has anyone seen her or heard of her?
Since I've been looking into mito issues, I think one of the best clinician/researcher in the field is Robert Naviaux @ UCSD.
He might be too far if you're on the East Coast, but a reading of his work (his Lab web page is full of info) is certainly useful and eye opening.
Here is an interesting review article I found...
Viruses as Modulators of Mitochondrial Functions
Certainly an area that deserves further research. I can appreciate that microbiome seems to be hot topic but in my opinion, understanding mitochondrial dysfunction in ME/CFS patients will be more fruitful.
I contacted Robert Naviaux @ UCSD. He wasn't able to help. It seems he is more research oriented and deals with "single" gene defects vs complex epigenetic disease. I was able to contact Duke specialist who will be ordering mitochondrial screening blood and urine tests.
In general, it is very difficult to find "appropriate" specialist. I suspect others have had similar experiences and it reflects the fragmented nature of our healthcare system.
On a positive note, a mitochondrial genetic specialist at Mass General is optimistic that medical advances in this field are accelerating and hopefully it will lead to improved diagnostic and treatment capabilities.
So the journey continues... one that requires patience, persistence, and perseverance.
Ironically, I have been reading several books on running ultra marathons.
"The best way out is always through". - Robert Frost.
Can you please keep us posted on your results, thanks!
The prospect of subset of ME/CFS patients with significant proximal muscle weakness may be misdiagnosed is very interesting. In the upcoming weeks, I hope genetic testing will reveal whether I have a mitochondrial myopathy. There is an excellent article written by Dr. Michio Hirano that reviews: A Diagnostic Algorithm for Metabolic Myopathies. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872126/pdf/nihms195802.pdf
However, if genetic testing is "negative", it raises some interesting questions about what is root cause of symptoms. For myself, I have strongly suspected my viral trigger was enterovirus (Coxsackie) given my acute viral syndrome that started in late spring. Other potential culprits such as Lyme disease and West Nile virus have been ruled out. I had upper respiratory, gastrointestinal and cardiac symptoms.
Other threads have looked at the potential benefits of intermittent fasting on autophagy.
The following is an article that raises important questions about how viruses from the Picornaviridae affect autophagy.
Further studies elucidating effects of enteroviral infections on autophagy may help to explain symptoms as well as potential treatment options.
Testing for adult onset Pompe disease and metabolic screening tests negative. Muscle biopsy negative. On waiting list for appointment re: possible genetic testing.
Hey RYO,I was wondering if you were able to get any answers to your problems. I am going through a similar thing right now and it seems like there is some type of muscle dystrophy going on with me, at least thats what the head of the EMG department tells me. He even mentioned Pompe's disease. I saw Kendall and she says it looks like I have mitochondrial myopathy/disease and will need further genetic testing.
What sort of metabolic screening tests did you do?
Do you have muscle problems too?
My evaluation for mitochondrial myopathy was negative including my EMG. I continue to experience unexplained muscle weakness (proximal worse than distal). NIH planning to repeat muscle biopsy as part of Intramural study.
Good luck with your additional testing. I hope you find some answers.
@RYO , did you had aggravation after an antibiotic course?
How about your blood potassium, do you have aggravation of your muscle symptoms when your blood potassium vary?
No aggravation after antibiotic course.
No relationship to potassium level. Tried numerous mito cocktail supplements w/o any improvement.
Chronic pain especially in my lower extremities getting worse. Muscle twitching always gets worse during relapse. Subcutaneous Gammagard trial 2 years ago may have worsened muscle symptoms.
I am worried that my condition is progressively worsening to the point where I am completely bedbound.
I wish I could live in zero gravity environment - international space station.
@RYO there is so much different forms of Myopathies, both acquired or genetic, I hope doctors will find what happens to your muscles;
Is Gammaguard the same as IVIG?
Did you tryed thiamine injections?
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