6kb mtDNA deletion, low heart rate and respiration during sleep

Pgrovetom

Active Member
I've been searching for the root of my problems for 15 years and finally may have found it. I've been down almost every road for ME/CFS and tried and investigated almost everything. I've been to Stanford ( Montoya and many others), UCSF ( many specialties), John Hopkins ( myositis center). Columbia (Fallon's Lyme group), and a full workup at the Mayo Clinic Rochester with very little to show for it. Then during mitochondrial DNA testing of a muscle biopsy at UCSF, a rather serious mitochondrial DNA problem was identified. It showed a 6 kb deletion in 15% of the mtDNA in he sample. This is 5 complete genes deleted which completely disables the mitochondria from producing ATP and energy. They are essentially dead. So that suggests my cells effected by this have an 18% greater need for oxygen on average than normal cells. This suggests my respiration/circulatory system must deliver 18% more O2 just to break even with normal.

One of my main symptoms has always been awakening feeling quite ill with GI, neurological and bodywide pain symptoms. I've dug into the GI issues and concluded that the constipation was causing SIBO and IBS but what was causing the constipation. Testing suggested problems with my smooth muscle and contractions while sleeping when "rest and digest" occurs under parasympathetic control ( enteric nervous system). But what was wrong with the enteric nervous system at night. I did sleep studies which showed no sleep apnea. I tried anti-seizure medication before bed and it did nothing. Sleeping wit supplemental Oxygen seemed to help sometimes. Watching myself sleep with video and audio showed nothing obvious. Then earlier this year the symptoms became unbearable. What was going on. It felt like Hypoxia?? maybe I wasn't breathing enough or my heart was having trouble. Earlier I had heart testing that looked ok but has something changed. I noticed from overnight pulse oximetry / heart rate testing that my O2 was a little low at 92%. I also noticed my heart rate was a bit low at 49-51bpm. Neither of these would be a problem typically.

But when you combine a low heart rate with low PAO2 combined with mitochondria that need 18% more O2 then things look suspicious. So I decided to try and artificially raise my heart rate while sleeping. First I tried caffeine and it seemed to work. Then I tried theophyline ( similar to caffeine ), and my heart rate average overnight was now 62bpm. All my symptoms were now gone. I tried reducing the dosage an my heart rate began to drop and symptoms began to return. Si I've been taking either caffeine or theophyline now for over a week making adjustments and its now obvious I have been starving my brain and muscles ( including GI muscles) for Oxygen for years while sleeping. Apparently it had varied depending on what medications I tried which would modify my depth of sleep and heart rate or respiration rate. I've just worn a ZIO-patch on my heart and had a Echocardiogram and not yet gotten results. If my heart is normal than its the mtDNA or other very basic Oxygen cellular perfusion or respiration issue. I'm curious if any has seen anything like this?
 

Baz493

Member
I had to look up mtDNA deletion to understand the problem. The deletion means that you've always been up against a brick wall, so to speak. It really sounds as though it's essential for you to really optimise your diet and supplementation in order to get the most of out of life. You might try playing around with dietary iron levels; too much and you get too much oxidation but too little and you have fewer red blood cells and myoglobin, the protein which draws oxygen into cells from your blood. If you try this then go for plant sourced iron as other supplements just grind the iron up and it's too large for the body to use. Have you checked yourself for the MTHFR gene mutation? If so then the right B vitamins can make all of the difference. ACTN3 R677X and MLCK genotypes can also make a difference to function and, like the MTHFR, are pretty common and make life just that bit more difficult. If you're not already taking it you may also want to look at ubiquinol, in order to maximise your energy production using the available oxygen. Either way, you should really account for increased cellular oxidation, resulting from the mitochondrial issues. Excessive oxidation, increased cellular calcium (as a consequence of the oxidation), and production of isoprostanes, are just going to make your life increasingly more difficult.
 

Pgrovetom

Active Member
I'm now looking more deeply into how to support the mitochondria and maximize blood O2 capacity. The brain and muscles have the most mitochondria since they have the largest energy ( ATP ) needs. So they would be the first to suffer with inadequate oxygen. I've tried iron and various B vitamin and other related supplementation without any change. I'm taking a good multiple vitamin, creatine, L-carnitine and coQ10 to hep the working mitochondria. More to come.
 

Baz493

Member
The increased cellular oxidation which results from an issue such as yours will be likely to lead to the production of isoprostanes and isoprostane-like substances. These are forms of lipids which have arachidonic acid attached to them and which have hormone-like effects on cells. They will trigger ion channels to open and close when they shouldn't be, further exacerbating any mitochondrial issues. Aside from powerful antioxidants, like grape seed or pine bark, you may want to ensure that you include a healthy supply of both saturated and unsaturated fats in your diet. I know that doctors don't like the saturated fats but, looking into isoprostanes, it seems that the only trigger to eliminate isoprostanes from the body are specialised oxidised-LDL receptors which detect the specific oxidised forms of lipoproteins. Not enough saturated fat in the diet and your body has to produce it for a range of issues, including sensing of the oxidised forms. There don't seem to be receptors for oxidised HDL despite it also being an issue so it all seems to hinge around the LDL receptors. Oh, I should mention that medical researchers have been taking these really seriously, since they were discovered around twenty years ago, as they link to many diseases.
 

Get Our Free ME/CFS and FM Blog!



New Threads

Forum Tips

Support Our Work

DO IT MONTHLY

HEALTH RISING IS NOT A 501 (c) 3 NON-PROFIT

Shopping on Amazon.com For HR

Latest Resources

Top