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Mitochondrial Disease

Muscles, fatigue | June 7, 2018 | Author: Naturopath

Nervous system, Muscles

Mitochondrial Disease

Mitochondria are structures located inside our cells which are responsible for creating energy needed to sustain life and support organ function. These organelles are found in very high concentrations in in certain parts of the body such as the heart, muscles and lungs.

Mitochondrial diseases occur when the mitochondria malfunction leading to muscle weakness, neurological problems and poor growth. The disease is usually identified in childhood but can appear at any age. Often the disease is inherited but, in some cases, can be due to toxin exposure and ageing.

What are mitochondria?

What are mitochondria?Mitochondria are extremely small and only visible under a microscope if they are stained. They are essential cellular structures which turn the nutrients from the food we eat into cellular energy in the form of adenosine triphosphate (ATP). In fact, they produce up to 90% of the energy that our cells need to survive. However, mitochondria do much more than just produce energy, they also have a role in:

  • The production of chemicals that your body needs for other purposes
  • Storage of calcium for cellular metabolism, steroid synthesis and hormone signalling
  • Communicating with other cells
  • Breaking down waste products so they’re less harmful
  • Recycling waste products to save energy
  • Destroying old, broken and dangerous cells

Mitochondrial DNA

Although most of our DNA is kept in the nucleus of each cell, mitochondria have their own distinct DNA, called mitochondrial DNA. This special type of DNA contains 37 genes, all essential for normal mitochondrial function. The DNA within mitochondria are more susceptible to damage than the rest of the genome. This is because during ATP synthesis, free radicals can cause damage to DNA and mitochondria lack some protective mechanisms that the nucleus does.

Mitochondrial disease

Mitochondrial diseases occur when there is malfunction of the mitochondria. Usually this is due to a mutation in the DNA. Most often these mutations are inherited but can also be spontaneous. When mitochondria stop working, cells are starved of energy. This affects how our heart, muscles, nerves and other important systems and organs work in our body.

Symptoms of mitochondrial diseaseSymptoms of mitochondrial disease

Because mitochondria have so many different roles, the disease can manifest in different ways.

Essentially mitochondrial disease is an umbrella term for around 40 different disorders such as Wolfram syndrome, Leber optic neuropathy, Leigh syndrome and Friedreich’s ataxia.

Common symptoms can include, but are not limited to:

  • Muscle weakness and loss of coordination
  • Problems with vision or hearing
  • Gastrointestinal disorders
  • Neurological problems, such as seizures, and cardiac, liver or respiratory disease
  • Developmental delay
  • Poor growth
  • Increased susceptibility to infection

There are also other conditions that are thought to involve some levels of mitochondrial dysfunction and includes chronic fatigue syndrome, diabetes, autism, Huntington’s disease, Parkinson’s disease, Alzheimer’s disease and schizophrenia.

Supporting healthy mitochondrial function

There isn’t a cure for mitochondrial disease but in some cases certain medications may be helpful. The goal in natural therapies is to stop the progression of the disease as much as possible through healthy lifestyle and supplement support.

Rest up

Someone with mitochondrial disease can experience extreme fatigue which can make it hard to go about daily activities. Allow a good night’s sleep (more than the average person would need) and time throughout the day to rest. Avoid overexerting yourself with exercise and other strenuous activities.

Healthy diet

Many people with mitochondrial disease have problems with their digestion and appetite. To maintain energy levels its important to eat small nutritious meals every 3-4 hours which includes wholegrains, veggies and a protein source.

Processed foods are taxing to our digestive system. That is, they require a lot of energy to be metabolized and create more of a toxic burden, while delivering very little nutrition. This is why eating unprocessed foods in mitochondrial disease is incredibly important.

Think steamed veggies, fish and brown basmati rice, cooked porridge with apple puree and natural yoghurt and broths.

Immune support

The immune system is usually depleted in a person with mitochondrial disease, making them more prone to infections and other illnesses. Avoiding certain settings are suggested to prevent over exposure to germs and this includes daycares, crowded areas and certain work environments. To boost immunity consider taking on a regular basis vitamin C with zinc and herbs with antimicrobial properties such as andrographis, echinacea, garlic or elderberry.

Supplements to support mitochondrial function

Coenzyme Q10

Coenzyme Q10 is one of the primary agents which have proven beneficial in the treatment of mitochondrial disease. The reason why coenzyme Q10 is so beneficial is because it restores electron flow in the mitochondrial respiratory chain as well as increasing cellular antioxidant capacity. The best way to take coenzyme Q10 is in its active form ubiquinol and in small divided doses.

B vitamins

Important for energy production and a healthy nervous system the B vitamins are particularly helpful in supporting people with mitochondrial disease.

Supplements to support mitochondrial functionWhile it is best to take the B vitamins as a complex, nutrients which are of particular benefit include niacin, riboflavin and folinic acid.

Look for a good quality product with higher dosages, which also incorporate activated forms of pyridoxine, folic acid and B12.


L-Carnitine is a cellular compound that plays a critical role in energy production. It transports long-chain fatty acids into the mitochondria so that they can be oxidized (“burned”) to produce energy.

Primary carnitine deficiency due to defective carnitine synthesis or transport is not a typical feature of mitochondrial disorders. However, patients with respiratory chain defects tend to have lower than average free carnitine levels in their blood. L-carnitine supplementation for mitochondrial disorders is a common practice aimed at restoring free carnitine levels and removing accumulating toxic compounds.

Other nutrients which are commonly prescribed to individuals with mitochondrial disease include lipoic acid, vitamins C and E, L-creatine and L-arginine. To determine what supplements would suit you best, discus treatment options with your health practitioner.  Australia’s best online discount chemist


Hargreaves IP. Coenzyme Q10 as a therapy for mitochondrial disease. Int J Biochem Cell Biol. 2014 Apr;49:105-11

Rodriguez MC, et al. Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders. Muscle Nerve. 2007 Feb;35(2):235-42

Parikh S, et al. A modern approach to the treatment of mitochondrial disease. Curr Treat Options Neurol. 2009 Nov;11(6):414-30

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