Dr Fran Kendall?

[Rossy191276]

Of course, our cells are stressed.

My MitoSwab results suggest mine are damaged. I can either sit around and wait for more cancer to kill me or to acquire some neurological disease, like Parkinson's, or figure out a way to fix the ones I have.:thumbdown:

Specialists for this are almost non-existent, but this is the type of diagnosis and care many of us need.

@Learner1 I was able to go back and find your very informative Mitoswab thread. I'll be very interested to hear what the Dr Kendell thinks about the validity of that testing. One thing I don't understand is why both results that are above and below normal are signs of problems. I figured that only below normal functioning would be signs of mito problems?

I do believe you have answered my question in that thread that I have had for a while which was whether respiratory chain enzyme function testing of muscle tissue could differentiate primary from secondary mito issues which I think now that it can't tell what is causing issues only say in which complex the mito dysfunction is occurring?

As far as I can tell the only tests that can suggest Primary mito are some findings on muscle biopsy histology and then known primary mito gene mutations...

Here is a paper that I found which has to me made the best attempt at distinguishing primary for secondary mito dysfunction: https://www.karger.com/Article/FullText/446586#F01

 

[Learner1]

@Learner1 I was able to go back and find your very informative Mitoswab thread. I'll be very interested to hear what the Dr Kendell thinks about the validity of that testing.

I had my appointment yesterday and found her to be quite knowledgeable. She is focused on primary mito disease, but we had a good discussion of the possibility that I might have both primary and secondary mito issues.

On the MitoSwab, she thought it was valid, but that there are other tests that could also be helpful. The quality of mitochondria can vary between organs and tissues.

One thing I don't understand is why both results that are above and below normal are signs of problems. I figured that only below normal functioning would be signs of mito problems?

High complexes II and III are throwing off too many free radicals, superoxide radicals, which can cause further damage to mitochondria.
In my case, I am homozygous for the SOD2 SNPs, which seems to indicate that I would be inefficient at making superoxide dismutase, which neutralizes the superoxide radicals.

This overabundance of superoxide reacts with NO to become peroxynitrites, which damage mitochondrial membranes and impair complex I. One can test for nitrotyrosine, which is an indicator of nitrotyrosine production.

The other indication is being low in antioxidants, like glutathione, ALA, and vitamins A, C, and E.

This is described in the attached papers.

High complex II apparently is commin in cancer. As a cancer survivor, I'm very concerned and this is why I'm pursuing this so hard.

High complex IV seems to create a lot of water. I'm not sure if that's bad, but have been told by experts that low complex I and high complex IV is a typical pattern for ME/CFS and autism.

I do believe you have answered my question in that thread that I have had for a while which was whether respiratory chain enzyme function testing of muscle tissue could differentiate primary from secondary mito issues which I think now that it can't tell what is causing issues only say in which complex the mito dysfunction is occurring?

That's correct.

As far as I can tell the only tests that can suggest Primary mito are some findings on muscle biopsy histology and then known primary mito gene mutations...

Yes..Dr. Kendall said she typically looks at some biomarkers first, then does m tDNA and Exile sequencing, and woukd do a myscle biopsy as a last resort.

Here is a paper that I found which has to me made the best attempt at distinguishing primary for secondary mito dysfunction: https://www.karger.com/Article/FullText/446586#F01

Thanks! That's interesting.

The thing I'm concluding is that with secondary mito dysfunction, one has a shot at fixing them if one isn't past the tipping point. With primary, onecis stuck with the genes one was born with, so there is no cure for now, one can only optimize function.

 

[Rossy191276]

I had my appointment yesterday and found her to be quite knowledgeable. She is focused on primary mito disease, but we had a good discussion of the possibility that I might have both primary and secondary mito issues.

On the MitoSwab, she thought it was valid, but that there are other tests that could also be helpful. The quality of mitochondria can vary between organs and tissues.

High complexes II and III are throwing off too many free radicals, superoxide radicals, which can cause further damage to mitochondria.
In my case, I am homozygous for the SOD2 SNPs, which seems to indicate that I would be inefficient at making superoxide dismutase, which neutralizes the superoxide radicals.

This overabundance of superoxide reacts with NO to become peroxynitrites, which damage mitochondrial membranes and impair complex I. One can test for nitrotyrosine, which is an indicator of nitrotyrosine production.

The other indication is being low in antioxidants, like glutathione, ALA, and vitamins A, C, and E.

This is described in the attached papers.

High complex II apparently is commin in cancer. As a cancer survivor, I'm very concerned and this is why I'm pursuing this so hard.

High complex IV seems to create a lot of water. I'm not sure if that's bad, but have been told by experts that low complex I and high complex IV is a typical pattern for ME/CFS and autism.

That's correct.

Yes..Dr. Kendall said she typically looks at some biomarkers first, then does m tDNA and Exile sequencing, and woukd do a myscle biopsy as a last resort.

Thanks! That's interesting.

The thing I'm concluding is that with secondary mito dysfunction, one has a shot at fixing them if one isn't past the tipping point. With primary, onecis stuck with the genes one was born with, so there is no cure for now, one can only optimize function.

Thanks for the update and glad you found appointment worthwhile...

So did she suggest further testing or specific treatment youbshould try?

 

[Learner1]

Yes, she will follow up with a report with her recommendations for tests. She went though an overview of supplements thst are typically used, though I found I'm already on higher doses of most of them.

The value in all of this is:

1. Identifying any primary mitochondrial issues
2. Having a better understanding of what's wrong, so I can predict my life, and apply for Social Security disability if needed, while supporting my employer disability case.
3. Identifying eays to optimize my function. If its secondary only, perhaps they csn me repaired and optimized. If it's primary (genetic) there his no cure but they csn be optimized.

In my case, my ME/CFS doc thinks my mitochondria are a bigger factor than some of his other patients, so this is worthwhile for me, where it may not be for everyone.

 

[Sunni]

It would seem that we would want to support mitochondria even if we don't know for sure if there is a problem since we need more energy. No?

Definitely - Dr Sarah Myhill goes on lots about this in her book it's mitochondria not hypochondria.

 

[Learner1]

How you support them can depend in what's not working well. It's not a one-size-fits-all type of thing....

 

[Rossy191276]

I presume she will then recommend for you to have the gene testing done @Learner1

 

[Learner1]

Yes. I was already at that point before talking to her. I'd discussed it with Richard Bolles 2 years ago at the United Mitochondria Disease Conference.

I wasn't ready then, but the question now is is the mess I'm in fixable, or is all I can hope for to optimize what I have??

I've done a lot of treatment and have vastly improved, but it's clear (both with tests and symptoms) that my mitochondria are functioning abnormally and it's taking a lot of mito cocktail support to keep me functioning. And I'm at risk for neurological diseases and cancers like my parents have had, which my mito results indicate a risk for, so the genetic explotaruon makes sense.

She suggested both mtDNA and Exome.

 

[Rossy191276]

I’ve just put my test in to Gene dx and will expect reults in about 7 weeks... I might also do the mito swab test

 

[mille100piedi]

sorry for the delay, I just wanted to let you know that I've got the result of my WES test and they found out I have a mutation in a muscle gene that is likely to cause my health issue. Dr Kendall was very helpful, she advised to take the WES test because she thought I have a genetic disorder. She was very good because she made me realize that my mother health issue is very similar to mine and at the end she was found with the same mutation. My condition can't be fixed but at least now I understand better what is going on and it is much easier to manage my symptoms. I think Dr Kendall see lots of patients and probably she has the experience to understand if the condition might be a metabolic/mito/genetic condition and in this case she is likely to advise to take genetic test. The whole exome sequencing unfortunately doesn't always show what is wrong, I guess I am one of the lucky ones