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Mitochondrial Disease: An Underlying Cause

Mitochondrial Disease

Imagine being sent to doctor after doctor with a multitude of unusual and seemingly unrelated health symptoms, only to be told to take some antidepressants and to “snap out of it”. You know it’s not that simple, but nobody seems to listen, until you finally see a doctor that suggests mitochondrial disease. Now it’s beginning to make sense since a sign of the disease is having issues in multiple body systems (although not always).

Since mitochondria produce energy in the cells, the parts of the body having the greatest energy demands often suffer the greatest consequences, i.e. brain, heart, and muscles. There is a broad spectrum of types of the disease, and any given case is its own puzzle.

What are mitochondria again?

Mitochondria are the power houses of nearly every cell in the body and produce almost 90% of the energy that the body needs to function. There are hundreds of them in a cell, functioning to process oxygen, and convert food into usable energy. When the conversion process is impaired, the consequences are multi-faceted. Most notably, it causes a lack of usable energy and an inability to store it. Since mitochondria perform so many different functions in addition to energy production, hundreds of conditions can result from their defects. Although the study of mitochondria related diseases have increased in recent years, due to the recognized links to other illnesses (i.e. Parkinson’s, Alzheimer’s, ALS, Heart disease, etc.), it remains an underfunded area of research.

If you haven’t heard of mitochondrial disease, commonly known as “mito”, you’re not alone. Most doctors aren’t familiar with it either, yet it is estimated globally that 1:8500 people of all ages have some form of the illness. It is difficult to ascertain how many people are actually afflicted, largely due to misdiagnosis and its clinical complexity. The severity can range from being a mild annoyance to a life threatening condition. In cases of adolescent or adult onset, the illness may be caused by a genetic predisposition that is activated by an environmental trigger, i.e. chemical toxins or a virus. All types come with their challenges, but for now let’s focus on adult onset.

Symptoms

The following are some of the more common complaints:

  • Debilitating fatigue- “flu-like”
  • Exercise intolerance with delayed onset of fatigue, often lasting 24 hours or more
  • Muscle weakness and loss of coordination
  • Cognitive dysfunction, i.e. brain fog & memory loss
  • Seizures and neurological problems
  • Autonomic dysfunction
  • Muscle and nerve pain
  • Gastrointestinal issues, i.e. dysmotility or gastroparesis
  • Unrestful sleep & insomnia
  • Headaches – of a unique nature
  • Depression
  • Noise sensitivity and temperature intolerance
  • Orthostatic intolerance

What’s the treatment?

Doctors differ in their treatment approach, but usually this includes symptom management, maintaining optimal health, mitochondrial support and avoiding mito-toxins. The scientific evidence for the use of vitamin and co-factor mitochondrial therapies is mounting. The foundation for most treatment protocols includes what known as the “mito-cocktail”. The cocktail is a customized combination of supplements known to synergistically support and enhance mitochondrial functioning. Typically it contains high doses of CoQ10, l-carnitine, creatine, alpha-lipoic acid, D-ribose and folic acid. Fish oil, B‐ vitamins, magnesium, vitamins C and D are also beneficial.

Nutrition

Lifestyle modifications geared towards minimizing stress, balancing hormones, along with managing energy usage are key for staving off disease progression and improving quality of life. Nutrition is an excellent way to reduce inflammation and oxidative stress. For instance, improving gut health can lead to improvements in brain function, energy levels, immunity, and depression. Since inflammation contributes to symptoms, avoiding inflammatory foods such as: processed foods, sugar, white flour, gluten, and dairy, can be beneficial. Specific food sensitivities are also common and can be identified with blood work or an elimination diet. Eating lean proteins and fatty acids (i.e. fish oil, chia seeds, avocados, nuts, coconut oil, etc.) protect against inflammation as well as to help nerve and brain function. This is just a glimpse of how diet can be a vehicle for improvements. Working with a health professional that can provide guidance suited to meet your individual needs is a worthwhile investment.

Exercise

Mitochondrial disease warrants an ongoing awareness of energy management. Exercise in moderation can improve one’s health status as long as it is not done in excess. For mito -sufferers, the threshold is usually low and some activities are more beneficial than others, i.e. swimming, yoga, Thai‐ chi and walking are all excellent for mitochondria. It is always important to not overdo, which can be tricky since the effects are not felt until later, i.e. post‐excertional malaise. Yet by not pushing oneself too far, improvements in movement will lead to both mental and physical benefits.

Mitochondrial disease can be an extremely debilitating disease since the illness touches on every aspect of one’s life, but it’s important to speak with your physician regarding treatment and possible lifestyle changes as listed here.

References:

1. United Mitochondrial Disease Foundation. Available at:
http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7929671/k.BDF0/Home.htm Accessed on April 7, 2016.

2. Muscular Dystrophy Association. Mitochondrial Myopathies. Available at:
https://www.mda.org/ Accessed on April 7, 2016.

3. Domingues, S. Isidoro, L. Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. Case Reports in Genetics. 2014 (2014):1-­‐4.

4. Cohen, B. Neuromuscular and Systemic Presentations in Adults: diagnoses beyond MERRF and MELAS. Neurotheraputics. Apr. 2013; 10(2):227-­‐242.

5. Mitoaction. Available at:
http://www.mitoaction.org/ Accessed on April 7, 2016.

6. Parikh, S. Santo, R. A Modern Approach to the Treatment of Mitochondrial Disease. Curr Treat Options Neurol. 2009 Nov; 11(6): 414–430.

7. Falk, M. Shen, L, Gonzalez, M. Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Mol Genet Metab. 2015 Mar; 114(3): 388–396.

Mitochondrial Disease: An Underlying Cause was last modified: September 25th, 2017 by Holtorf Medical Group

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