What Differentiates ME from Primary Mitochondrial Disease?

[BeautifulDay]

I am very sorry to hear that your whole family is suffering an grateful for your time. Since during my last hospital stay I had a muscle biopsy I am awaiting the copy of the report. My doctor has said that they found problems 'not indicative of mitochondrial disease' so when I get a copy I will look into what they found further...

I'm very interested in reading what you post about your muscle biopsy report. In the below linked thread, I posted at the bottom, a different way that doctors can look at muscle biopsies to find more cases of MitoD.
http://forums.phoenixrising.me/inde...out-mitochondrial-myopathy.55973/#post-932667

 

[Rossy191276]

I'm very sorry you are going through this.

Do you know if Ron Davis' study did Whole Genome Sequencing (WGS) or Whole Exome Sequencing (WES) on the participants? If not, do you know what genes he was looking at? Or was it just the genes in the mitochondria which can only be passed to children from the mother? Did they give you your VCF files for the genes that they looked at? Was it blood or saliva or cheek swab? Sorry, I'm the geeks geek.

At the spring MitoD conference, one of the MitoD doctors said that regularly he has patients that nobody can figure out and after reviewing their cases and symptom history he'll do the WES. What he has found on many occasions is that it turns out not to be MitoD, but various other genetic diseases that nobody thought to test for because they are so unusual. My hope is that doctors looking into MitoD are really looking for anything that would answer the question of "What the heck is wrong with me?", rather than just looking at the MitoD mutations known on that day.

I'm a big believer in WGS/WES. Then as new mutations are then lumped into MitoD, one just needs to rerun their VCF file comparing it with known pathogenic mutations.

Thank you @BeautifulDay

I have attached an image of the Mitochondrial genes Ron Davis looked at... It included Whole Genome Sequencing, Whole Exome Genome Sequencing, Mitochondrial Genome Sequencing, Mitochondrial DNA/Nuclear DNA Radio

I was not in Ron Davis's study so I haven't had these tests done. I have had 23amdme done and was in a gene study in Australia with Melbourne Bioanalytics which found that ME patients were 20 times more likely to have genetic mutations in G Protein Couple Receptor Genes than Controls and my doctor has told me I have a lot of these mutations but I don't know the specifics. This study also looked at MtDNA and found only one SNP difference compared to controls- T456C. I have it on my list of questions for my doctor at my next appointment to ask about my specific MtDNA results from 23andme.

I am also happy to post my muscle biopsy report here when I have it and I will ask my doctor specifics about how my biopsy was examined and about the fibroblast and electronmicroscope options for examining biopsies...

Rossy

 

[Rossy191276]

I am trying to understand the different ways one could come to have mitochondrial dysfunction/myopathies... 1.) We could have inborn genetic mitochondrial mutations tested for in the gene sequencing...2.) We could have other factors that are negatively affecting mitochondrial function but not have a genetic issue most commonly currently hypothesised in ME/CFS... and it is the 3rd one I am trying to understand 3.) Is it possible to not be born with a genetic mutation but then acquire one during life that actually changes the gene so it becomes mutated (i.e., so we actually can't tell whether we were born with the mutation or acquired it in gene testing), or with acquired gene mutations can testing differentiate inborn and acquired genetic mutations, or are acquired gene problems not actually changing the gene itself rather just changing how it is expressed? (sorry if this is really basic and thanks for helping me understand)...