I Have Been Diagnosed With Mito Disease By Biopsy Now

[POTLUCK]

Prior to my POTS diagnosis when I felt dizziness was caused by Temporal Lobe Epilepsy/ Seasonal Energy Syndrome the doctor who gave me this diagnosis said he believed it was a mitochondrial disorder and I began looking into it.

Labs were abnormal including Free Carnitine-low, AcylCarnitine C2 C14, C16 etc. many above normal, ammonia high, many repeat CPK high but not sky high ( ~ 3-5x normal )

Mito geneticist seen- did skin punch biopsy based on above abnormalities and clinical suggestion such as epilepsy, DM 2.

The biopsy Fibroblasts showed an " Electron Transport Chain Complex 3 " problem with output 20 % of normal and increased mitochondria overall along with increases in other areas which the specialist says is an attempt by the body to compensate.

He gave me the top secret mito formula I have only heard of till now, which is Carnitine 3g/day, Coenzyme Q10, and a couple vitamins ( C, Riboflavin, and 2 others ) I have not picked it up yet but I think the insurance will only cover the Carnitine.

He did not sound very hopeful it would do much to help me.

[Chaos]

Interesting! Thanks for posting this info. Glad you have another piece to the puzzle, but wish it had more of a significance as far as treatment went for helping you get better.

[issie]

Dr. Goodman, at Mayo in AZ - suspects mito issues with many of us - including me. But, he said that there are still many mito issues that they can't test for and the few they can check are hard to pick up. So finding something - is a victory for you. If you could post all the things you are supposed to take, I'm sure many of us would appreciate it. It wouldn't hurt to try these things and see if they make a difference. I'm guessing it's what is called the Mito Cocktail. There are a few people on this already. Haven't heard how they are lately. I'm on the CQ10 and Vit C. I took l-carnitine in the past - but now it seems too energizing. There is another product you might want to check into called PQQ by Life Extension. I have some of it ----but, it is really energing. I have to divide it into thirds. I have left it off and plan to start trying it again ---before it was too stimulating. I talked to the company and they said that they had heard that from others - but, it will definitely up your mito. It's supposed to help with neuron and nerve transmission too. I did a study on it and found that body builders are using it and they are lowering the dose too and only taking it every other day. They claim it is increasing their endurance and strength.

Issie

[Clairefmartin]

I'm sorry to hear you have Mito - but glad you have another piece in the puzzle. I have heard my Mito friends talk about the Mito cocktail as well, and quite a few have benefited from it - so hopefully you will too! I read at last count there were 1500 different Mito's, and most hard to find, so it is great you got some answers. Sending hugs!

[Clairefmartin]

Weird - I hopped on Facebook and someone posted this about PQQ: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2804159/?tool=pubmed

[issie]

One of the best articles I've read on PQQ is at Life Extension. It tells how it helps with neurotransmission and mito function.

Issie

[ramakentesh]

I know a few who have tested positive to Mito issues so that is interested and I am sorry to hear this.

Hope you find something that helps.

[POTLUCK]

Chaos& CfMartin78 thank you!

Issie- he told me to take Coenzyme Q10 ( which I have heard is better as Ubiquinol, the reduced form, and may halp in many ways other than my mito ) 350mg/day, Carnitine 3gm/day, Vitamin C 4500mg-which seems insanely high, Riboflavin 100mg, and Thiamine 300mg. The mito cocktail may vary with disorder though.

Rama- I am glad you replied to this as I do not know what to make of it. Mito disorders generally have a deteriorating course. He says I have an " Electron Transport Chain Complex 3 " disorder based on biopsy cultured fibroblasts showing lower activity ( 20% of normal ) than controls, but I am unsure how serious to take this.

For example are the activity results age corrected, as an older person is likely to have less activity, and more controls will come from younger individuals etc.

How does this connect to my Diabetes and the onset of diabetes with the onset of "POTS" symptoms in 11/2009. Can diabetes effect ETC complex 3 activity sometimes. And the real kicker is why do my symptoms improve in direct sunlight and worsen on cloudy days. The POTS doctor and the Mito doctor cannot explain this, but it seems like the most important aspect of the ilness. ( And I was given the diagnosis of Seasonal Energy Syndrome with Temporal Lobe Epilepsy 20 years ago and have been on medication since )

My point would be that maybe my Seasonal Energy Syndrome IS MY PROBLEM, and the biopsy results showing Electron Transport Chain Complex 3 to be defective are just due to this.

This is not esoteric by any means, as a mito disorder with deteriorating course is a terrible thing. The mito doctor does not really offer any information other than the biopsy results and a 6 month follow up.

[issie]

Thanks POTLUCK for the info on what you're taking. I'm on the CQ10 (ubiquinol) and Vit C and a B Complex - with extra B1 (thiamine) So, not missing a whole lot to my normal regimen. Can you tell a difference yet?

FYI, I did a search a while back and some of our POTS symptoms seem to "maybe" be connected to deficiencies in B1 and also Vit C. If you look at symptoms of these being low -you get a whole lot of our POTS symptoms. With connective tissue issues Vitamin C - helps with collagen formation and it just makes sense for us with EDS. I wasn't taking that high of a dose though. If you get diarrhea, you know you've had too much.

Hope this helps to increase your energy and stamina. Keep us posted.

Issie

[POTLUCK]

Issie-my fasting sugars went up so I stopped the mito stuff yesterday for a bit till I can see if there is a connection. I figure no rush to get on it. Meanwhile, I am continueing my slow tiration down on Propranolol ( now from Propranolol Long Acting 80 mg twice a day to only 40 mg twice a day- I have cut my dose in half !!! along with cardiac exercise - now at 10 miles running per week. )

[POTLUCK]

Ubiquinol cost me $60 for 60 200mg capsules = $60/month = $720/year. Not covered by insurance. Anyone get this cheaper?

[issie]

Oh yeah, I use NOW brand and I order my supplments from a company out of NJ. I always get 30 to 50% off retail. You can order on line and save more if it's over a certain amount. It's called HiLife Vitamin and Herb Co. I've done business with them for years and it's saved me a whole lot of money. The CQ10 I get is only 50mg. though - but, since it is the Ubiquinol you need less than the normal amount of CQ10. There are studies showing the equlivelances and I've found 50mg. to be enough. But, with a true and known mito issue I'd use at least 100 mg. One bottle would last a month and cost me $16.00 plus shipping. The code is 3373903145. They can get just about any brand you want, just put the bar code in and see if they have it. If it doesn't come up - you can call them and see if they can get it.

Issie

[issie]

Potluck, Did your sugar levels balance out more with stopping the mito stuff?

Issie

[POTLUCK]

Issie,

I do not think the mito cocktail was affecting my sugars, just want a couple weeks to make sure. The sugars are still a little high. I am going to add a sulfa drug or some insulin in conjunction with my doctor.

[bellgirl]

I have put myself on several supplements over the last several months that are mitochondrial based, and I'm amazed in the difference in my energy levels. I'm a new person. I'm on CoQ10 100mg/day, L-carnitine 500mg every three days, or when I have heart pain, (MVP), Alpha Lipoic Acid 200mg every 3 days, B complex with C every other day. I've read that Alpha Lipoic Acid is good for metabolizing sugar, plus has antioxidant effects. Thought that might interest you Pot Luck.

I'm also on increased doses of Vitamin D, because I've been low by blood work; now I'm on 2,000 IU's, but if I start having muscle or bone pain I increase the dose and double for a few. I was initially on 4,000 IU's per doctor's order for a month and 2,000 for maintenance. I'm on some other supplements listed below.

I have decided we are our best advocates!! I am using the knowledge from my nursing and the brain God gave me . I've felt badly for too many years before diagnosis, 13, so I need to do all I can to take care of myself. I have Pure Autonomic Failure, Mitral Valve Prolapse and Sleep Apnea with many neurological symptoms that mimic MS, so I'm following MS protocol, by my own research, and it's working for me.

[issie]

Issie- he told me to take Coenzyme Q10 ( which I have heard is better as Ubiquinol, the reduced form, and may halp in many ways other than my mito ) 350mg/day, Carnitine 3gm/day, Vitamin C 4500mg-which seems insanely high, Riboflavin 100mg, and Thiamine 300mg. The mito cocktail may vary with disorder though.

Potluck,

Did you ever try all this and did it work?

Issie

[POTLUCK]

Issie,

Having been diagnosed by a Mito genetics doc it seems crazy not to take the supplements, but actually no, I am tapering my Propranolol first and exercising. I would like to see if the criteria for POTS vital signs can go away without ANY Propranolol, yet I still have symptoms which will be suggestive of another cause. Thus I continue an incredibly slow taper while exercising. I am using clear gel capsules to split doses of the long acting Propranolol, otherwise I get to much fluctuation in my vitals. Either way ( if I can taper the Propranol completely or not ) I will likely try the supplements after that.

The Mito genetics doc does not seem very interested as he gave me no instructions on/or relation to the DM, simple seizures, or POTS and just made a 6 month follow up.

[issie]

Since you know there is a mito issue . . .why not at least add the CQ10 and carnitine. That would help you with your exercise too.

It sounds like you are doing better, with being able to taper the meds down some. So, do you think that exercise is going to be your key?

Did you see the article I listed recently with connections to temporal lobe epilepsy and Adenosine Receptors? Seems there is some connection with CFS, FMS too. I haven't looked into it as deep as I want to. But, find it interesting ---the connections. Especially since CFS and POTS is so similar and seem to go hand in hand with some. This may be a connecting factor.

Issie

[POTLUCK]

Issie, I am still doing Carnitine as I had started it some time ago. The reason I do not want to add the recommended Mito cocktail despite medical advice to take it, is that tapering my Propranolol and running seems to be bringing my dose of Prorpanol lower and lower. If I am able to do this but take mito meds, I will really not know that it was not that the mito meds were treating it. I would rather see if I can get Propranolol to zero first without meeting POTS criteria at rest. Then if stil symptomatic consider other causes. Maybe it is crazy but I have been tapering this a long time now, and want to give it a finishing shot.

[issie]

Understood --Potluck. Hope things continue in the right direction. Keep us posted.

Issie

[POTLUCK]

I am still on Propranolol LA 20 mg AM only, just recently reduced from 15 mg BID, so I expect my HR to go up some more, expecially standing.

I am starting my Mito Cocktail though. ( Started 10/8/2012 ) Seems like I might be doing a little better. Maybe that is just hope.

[issie]

Sounds like things are improving. So good to hear. Let us know how the cocktail works and if it is the missing link.

Issie

[Chaos]

I'll be curious to hear if you can get off the propanalol completely. Both my cardio and neuro keep saying I'll be on a low dose for life, but it's such a low dose, I wonder. When I try going down tho, I definitely know it.

[POTLUCK]

Chaos- Regarding what you said about the doctor saying "I'll be on a low dose for life." I was doing terrible overall last spring when I saw the Cardiologist who specializes in Electrophysiology and POTS, and he said "this is just the progression of the illness." He gave me Mestinon at the time as the next thing to try I believe. ( It is Pyridostigmine right? ) I did not take it because I had to return to work within days or lose my job and had read on this forum that often people get GI side effects.

I started this plan of exercise and slow Propranolol taper. I am not well, but am much better than in the spring. Symptoms are better, Lying and standing HR are almost as good as on Propranolol 80 BID, ( ~ 75 lying, ~ 95 standing average. I still meet criteria for POTS because individual numbers will vary ) Lastly I see myself as doing better because I am on so much less Propranolol - 10mg BID.

I am continueing the mito cocktail (12 days) and as above would have to say that it may be helping reduce the feeling I call dizziness that comes with cognitive problems, like " brain fog." It is hard to say for sure, and is not 100% relief by any means.

I

[POTLUCK]

http://www.google.com/patents?hl=en&lr=&vid=USPAT8097635&id=WSgBAgAAEBAJ&oi=fnd&dq=pyrroloquinoline+quinone&printsec=abstract#v=onepage&q=pyrroloquinoline%20quinone&f=false

Not sure if the link above will go through but I found a patent for PQQ for decreasing insulin resistance. It seems to ahve a tremendoud ability to help with oxidation-reduction which means it can assist damage mitochondria, help protect damage to the brain from oxidative stress, and help with the generation of new mitochondria. I am interested in this thing.