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Thursday, January 12, 2012

What is a Mitochondrial Depletion?

I remember when the Neurologist called and told my husband they found a depletion, I had never heard of it.

Took us awhile to figure out if it was a "depletion" or a "deletion.". But it was a Mitochondrial Depletion they found in the muscle biopsy.

This is how we describe it.

They made the 1995 ford Taurus. They all looked the same. You buy one, and 1/3 of the way home you run out of gas. Turns out, that the factory made a mistake and the Taurus you bought only had a gas tank 1/3 the size of what it was supposed to be.

Abby was born with only 1/3 the ability of making energy in her body of what everyone else has..

There are a lot of questions for us at this point. We wonder when she was born was she able to make more and her ability to make energy has become less as she gets older? Or is she still making the same amount of energy as she did when she was born, but fueling a full sized body with the same amount of fuel is now taking it's toll and causing wear and tear damage? Does she have some other disease process that interferes with her ability to make enough mitochondria? The scary thought is, will her gas tank continue to shrink? There is something referred to as the threshold effect.. from what I understand things really start to malfunction and shutdown at the 20 percent mark.. No one can survive without mitochondria. Depletions are diagnosed when you have less then 50 percent of what you should, though usually not until the 1/3 level like Abby.

I am going to try to struggle through what I know about depletions- there isn't a lot of literature available to patients, so we are a little slow in truly understanding this completely- we are getting there though! :-)

There are a number of types of Mitochondrial depletion syndromes. I believe there are a total of 8, but really only 3 types are found in the literature. The most common is the type that effects the liver most-having that type is usually fatal in early childhood.

There is a type of depletion due to medication. Some medications can cause your mitochondria to be unable to replicate. I believe, there are also other types of disease processes that can cause a depletion- so you don't necessarily have to be born with a depletion like Abby.

Then there is Abby's type which is most prominent in the muscles, called Mitochondrial Depletion Syndrome,Myopathy. Sometimes you will see abbreviations- MDS, or MDDS.

Currently, the only way to diagnose a Mitochondrial Depletion Syndrome is through either a muscle biopsy or liver biopsy. Abby's was found in her second muscle biopsy(back in 1996 when she had her first, they did not really know about mito yet). We are lucky to be in Houston where her second biopsy samples were studied through Baylor. I have run into a couple interesting documents online from Dr. Wong at Baylor about their interest in depletions.

If you search the web, most of the information on all types of Depletions indicate a very poor survival rate(teen years at best). So, we were terrified at first. Since then I have learned that there appears to be a small population who like Abby have some serious good luck and have had a milder course with their disease. We have chatted with a few 20 somethings that are hanging in there, and even read about a Mom in her late 30's who despite her body really struggling now is still plugging away. The difference between Abby and even these patients is Abby seemed to more symptomatic as a baby, and these patients seemed to not get sick till they got older.

We have also learned that the level of depletion can vary organ to organ, body system to body system. So, in her muscle she may be at 1/3 of where she should be, but it is possible her brain is fine, or her heart or liver. In Abby's case her kidneys have shown disease process- which we don't know if it is because the kidneys are low on mitochondria,or because other organs are low they are causing additional wear and tear on the kidneys. She has problems with her bladder. She has a poor immune system. She has some GI issues that are getting worse. As she is getting older, more and more issues are popping up- again, our question,is the level getting lower or is it still the same but we are seeing her wear out from an adult bodies need on 1/3 of the energy.. I think that she has probably stayed at the 1/3 level, but because that is not enough energy to keep her organs healthy they are aging(for lack of a better word) more quickly then they should as they are not being fueled properly.

Mitochondrial Depletion syndromes are known to be caused by mutations in your nDNA. There are 11 different mutations they know cause Depletions, but Abby doesn't have any of those mutations. They(researchers)are discovering new mutations daily at this point, so the hope is sooner or later they will figure out which one of Abby's nDNA are responsible. We know that depletions are caused by issues with the mitochondria's ability to replicate. Some types of Mitochondrial disease are due to replication, but there are lots of other things that can go wrong with your mitochondria besides issues with replication.

When talking research it appears that the mechanisms of depletion make it mostly likely to be cured first. Which gives me a great deal of hope. It will also interest the big pharm companies- if they can figure out how to induce mitochondria to replicate they could possibly create a pill to slow aging- and wouldn't that be something?

When I step back and try to put myself into the shoes of a Researcher- this is a very exciting time! We are now finding that mutations in our mitochondria are connected to all sorts of diseases including cancer. Literally, it is a weekly event to read a new breakthrough has been found in this field of bio chemical research. As a Mom to a mito patient, I can only stand on the side line and cheer these researchers on!


Julie Sherrard said...

Hello Diane, I am sorry to hear what you have gone through and so terrible for little Abby to have to endure this. I note this blog was written a year ago, can you tell me how Abby is now? We have just found out today that my niece Alice has Mitochondrial depletion and we are devastated. We have been told her life expectancy is only a couple of years, she is 11 months at the moment. I am searching and searching the internet hoping to see a miracle.
Regards Julie

Diane said...

Julie, so sorry to hear that your niece has been diagnosed with a depletion.

Much depends on which organs are involved as to the prognosis.

It also depends on the precent of depletion as to prognosis, and even then there is not a whole lot know still about depletions.

Abby is approach 18 years old. She is doing remarkably well. She is able eat a nice variety of foods. No further complications. She hasn't needed her wheelchair in months now. Though, she hasn't left the house much. She fatigues quickly and catches every cold. Being home to stay healthier has been well worth it. She has a Dr. appt this week and asked to stop by the pet store after the appointment, first time she has gone shopping in over 6 months.
She has held her weight and her nutrition has improved. She continues to have issues with her kidneys but nothing needing any interventions yet.
Over all, she is remarkably doing well. If you would like feel free to write me at neumandiane@yahoo.com- you must have a lot of questions and though I don't know a lot, perhaps I can share some resources to help.


Anonymous said...

Diane- I appreciate your blog. My neice was diagnosed 2 weeks ago, and although I am in the medical field, I have never heard of this. She had a liver transplant and was doing remarkably well until they discovered over the weekend she is also now in heart failure. She is only 3 yrs old and this whole process has been unbelievable! Can't even express how devistating this is for our family.

Diane said...

My heart goes out to you! We are a few years into this and I still think the journey is unbelievable.. it hard to grasp it all. Your niece is in my thoughts.

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