Friday, March 18, 2016

Mitochondrial Dysfunction in Kennedy’s Disease

I came across the following on the Kennedy’sDisease – Raising Awareness Facebook page:
I have been taking Acetyl L-Carnitine since September and have seen a dramatic improvement in the reduction of muscle fatigue, resulting in greater activity and better health overall. I started with L-Carnitine at 500 mg to see if there were any side effects, then after one month I switched to Acetyl L-Carnitine (which crosses the blood/brain barrier), again 500mg to start then 1000. Its hard to quantify what 'better' is in our lives, but.... so far this month, I have built 12' of cabinets in the dining room, built a 15x16ft glass greenhouse at the end of the drive and moved two pallets of brick pavers and two yards of soil. All jobs that have been waiting for several years.

There was also a link to the study and I have posted that below.

First, I must qualify myself. I am not a doctor or medical student. So, any comments are strictly of a layman with an interest. In reading the article, I noticed it was not a study. This article reported the findings in studying one patient with KD. It proposes the possibility of this regiment in helping improve energy (reducing muscle fatigue). The article proposes a more complete study to determine if the initial findings can be duplicated.

When there was a lot of excitement from other Facebook members wanting to give this a try, the gentleman responded with the following caution.
Please, everyone, little steps.... no one gains if you break your leg running to the store. Try a small dose in the morning with food if you like for a few days. It is expected to help with muscle fatigue only, so that means embarking on some activity as well. The aim is to feel better; not eliminate the disease. Too much too soon and you may experience side effects that remove it as a therapeutic tool.

This is sound advice. One patient doesn’t make a study. IMPORTANT: Always consult with your primary doctor and your neurologist before beginning any supplements, especially in high dosages.

Of course, anyone with SBMA wants to know more, so I looked up the definition:

Mitochondria: Structures located in the cell's cytoplasm outside the nucleus. Mitochondria are responsible for energy production. Each consists of two sets of membranes: a smooth, continuous outer coat and an inner membrane arranged in tubules or in folds that form plate-like double membranes (cristae). The mitochrondria are the principal energy source of the cell. They not only convert nutrients into energy but also perform many other specialized tasks. Each mitochondrion has a chromosome that is made of DNA but is otherwise quite different from the better-known chromosomes in the nucleus. The mitochondrial chromosome is much smaller than other chromosomes. It is round, whereas the chromosomes in the nucleus are shaped like rods. There are many copies of the mitochondrial chromosome in every cell, whereas there is normally only one set of chromosomes in the nucleus. All mitochondrial chromosomes are inherited from the mother.
Reference: NIH, US Library of Medicine, Genetics Home Reference. Mitochondrial DNA. 
I also looked up possible side effects for this supplement and this is what I found at WebMid.  

Acetyl-L-carnitine is LIKELY SAFE for most adults. It can cause some side effects including stomach upset, nausea, vomiting, and restlessness. It can cause a "fishy" odor of the urine, breath, and sweat.

Under-active thyroid (hypothyroidism): There is some concern that acetyl-L-carnitine might interfere with thyroid hormone. Don’t use acetyl-L-carnitine if you have an under-active thyroid.

Seizures: An increase in the number or seriousness of seizures has been reported in people with a history of seizures who have used L-carnitine by mouth or by IV (intravenously). Since L-carnitine is related to acetyl-L-carnitine, there is a concern that this might also occur with acetyl-L-carnitine. If you have ever had a seizure, don’t take acetyl-L-carnitine.

Mitochondrial dysfunction in Kennedy’s disease: a new pharmacological target?
Chong Wang, Wei Chen, Dan Miao, Jin-Tai Yu, and Lan Tan


Mitochondrial impairment and elevated oxidative stress have been implicated in the pathogenesis of Kennedy’s disease. However, there is still no study describing the mitochondrial nutrient management in patients with Kennedy’s disease.
We assessed the clinical and electrophysiological features in a patient with Kennedy’s disease. This patient was diagnosed by genetic analysis. We also measured the plasma 8-hydroxydeoxyguanosine (8-OHdG) levels of the patient and his family members using commercial enzyme-linked immunosorbent assay (ELISA). Treatment with intravenous L-carnitine (2 g/day) for the patient was started on admission, followed by two weeks.


  1. Hi Bruce,
    Thank you so much for wonderful information. I would like to try it too. I have a question. I have been taking avodart generic for several years. You have been taking avodart, have not you? Did you take acetyl-L-carnitine and the avodart? or did you stop to take the avodart? What shall I do? Thank you. Gary-KC

  2. Thank you for commenting.

    I am not taking the acetyl-L-carnitine. I want further information on it before discussing it with my doctor. My energy level is pretty good. When I was younger and I overdid, I what have moments of depletion, but that isn't the case today. I still take Avodart and feel it works for me. Please, if you do decide to try this, discuss it with your doctor(s) first.

  3. Hi Bruce, Thank-you for adding to my comments regarding Acetyl L-Carnitine. The article I posted with my comments was chosen for its readability and is only one of myriad case studies and studies researching mitochondrial reduction and dysfunction related to Kennedy's disease. In fact where mitochondria in conjunction with the expanded CAG repeat has been included in testing, reduction or dysfunction has been found in every instance whether in the presence of testosterone or not. After two decades of research, the defining aspects of Kennedy's Disease are changing. A good starting point for your readers can be found at the following link. Paul

  4. Bruce,

    I had a friend recommend taking Protandim. He orders it for his mother that has Parkinson's. I read this blog today about "Mitochondrial dysfunction in Kennedy’s disease: a new pharmacological target?" The article states that people with Kennedys has elevated oxidative stress levels. When you google what protandim is you find this:

    Protandim is a supplement that combats oxidative stress through Nrf2 activation. Oxidative stress happens in everyone. Protandim significantly reduces oxidative stress through Nrf2 activation. Nrf2 regulates survival genes.

    Is this a vitamin I should look in to to help with the elevated oxidative stress levels?


  5. Dusty, I don't know anything about it. I looked it up and notes the possible side effects: "The side effects of Protandim may include allergic responses, gastrointestinal disturbances (stomach ache, diarrhea, vomiting), headache, and rash of the hands and feet."

    I would rec'd discussing it with your doctor and then make your decision.


Please feel free to comment. By taking a moment to share your thoughts you add much to these articles. The articles then become more than just something I said or believe. In addition, by adding a comment, you might just be helping the next reader by sharing your opinion, experience, or a helpful tip. You can comment below or by sending me an email. I look forward to hearing from you.