aquariusgirl
Senior Member
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Got it. J1c2 here.
14798T/C ..what’s the gene?
14798T/C ..what’s the gene?
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Created in 2008, Phoenix Rising is the largest and oldest forum dedicated to furthering the understanding of, and finding treatments for, complex chronic illnesses such as chronic fatigue syndrome (ME/CFS), fibromyalgia, long COVID, postural orthostatic tachycardia syndrome (POTS), mast cell activation syndrome (MCAS), and allied diseases.
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Done thanks.There's a poll here which is still active and which could potentially be helpful if people would continue to participate:
Thank you @BeautifulDay for making the book free to download. Took me three days to read, a little bit at a time, and I thoroughly enjoyed it. Fascinating. Need to read a few more times for it to really sink in (brain fog).
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One observation I had. You mention Gulf War a few times. Nancy Klimas has stated in a few videos that clinically she cannot tell GWI and ME apart, but metabolically they are opposite with GWI exhibiting hyper-metabolism. Any idea why if they probably also have mitochondrial dysfunction they exhibit hyper instead of hypo metabolism?
It makes me wonder if genes that result in exercise intolerance, likewise lead to an increased susceptibility to getting ME/CFS. Perhaps this could account for some paternal lines of ME/CFS.....
I wish geneticists were more available to rule out, or advise on, mitochondrial disease in our patient population. Most seem to operate in pediatric clinics as that is where mitochondrial disease is most obvious. Adult onset is very difficult to detect.
There's a poll here which is still active and which could potentially be helpful if people would continue to participate:
https://forums.phoenixrising.me/ind...ossible-indicator-for-me-cfs-phenotype.36870/
I made it a few years ago to try to determine whether one maternal haplogroup versus another was more likely to experience increased energy impairment with ME/CFS.
Although not a scientific poll, it's set up in such a way that if the idea that @BeautifulDay presents in her book is correct regarding there being a genetic component to ME/CFS, then it should eventually show up in that poll. Right now the poll is favoring her idea but too few people have participated so far to draw any conclusions.
You may enjoy this Nancy Klimas Powerpoint from Aug 2017 on GWII'm putting "watching Nancy Klimas videos" on my "to do list". Especially, watching for the mention of hyper-metabolism.
Do you know if there is a list for non-mtDNA variants that cause exercise intolerance? That might be very useful for researchers as well. For example AMPD1 deficiency is very commonIt would be very interesting to find out if any of the ME/CFS patients on this board (or elsewhere) have any of the exercise intolerance variants listed in Chapter 24.
Link : https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiencyPeople who do have symptoms typically have muscle pain (myalgia), cramping, and weakness after exercise, and often get tired faster than others. Some affected people appear to have more severe symptoms. AMPD1 deficiency is caused by changes (mutations) in the AMPD1 gene and is inherited in an autosomal recessive manner.
Link : https://www.omim.org/entry/615511Genetta et al. (2001) stated that AMPD1 deficiency is the most prevalent genetic disease in humans, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent (Sabina et al., 1989). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to Genetta et al. (2001).
You may enjoy this Nancy Klimas Powerpoint from Aug 2017 on GWI
https://www.va.gov/RAC-GWVI/meetings/aug2017/KlimasAUG2017.pdf
FYI - she is the one doing the COQ10 study you described
Do you know if there is a list for non-mtDNA variants that cause exercise intolerance? That might be very useful for researchers as well. For example AMPD1 deficiency is very common
Link : https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency
Link : https://www.omim.org/entry/615511
1.8% seems like a rather large number to me.
Ahhhhhhhhh ...... this is where studying families with multiple affected is really powerful to narrow down possible genetic variant influences on disease.Combining the fact that the mito experts at MSeqDr are currently watching 1,570 nuclear genes with the fact that a key symptom of mitochondrial dysfunction is often exercise intolerance, the number of genes that could potentially impact exercise intolerance is likely to be very high.
https://www.facebook.com/search/top/?q=bateman horne center&epa=SEARCH_BOXBateman Horne Center
Please join us for our free live stream event, tomorrow Weds. Dec. 5th 6pm MST. Mutations in Energy and Autoimmune Genes Cooperate to Cause ME/CFS" with Alan Light, PhD. New findings suggest that multiple mitochondrial mutations create susceptibility for ME/CFS. Watch the event from our Facebook page. Q&A to follow.
Yes he did. I created a new thread for the talkIt will be very interesting if Alan Light, PhD. has proof from a study of the general population of ME/CFS patients (not just those with a family history of ME/CFS) that there is an increased frequency of deleterious mitochondrial mutations in patients with ME/CFS. I look forward to the details.