Most therapeutic treatments for Mitochondrial Disease aim to either reduce damage to mitochondria, improve energy generation or remove toxin build up.
Supplements like cofactors (made by the body) or vitamins (from food) can help with this and are often prescribed by clinicians in combination as a ‘cocktail’ tailored to the individual patient.
Although there is still no clinical evidence that these supplements actually alter the course of the disease, there have been many anecdotal reports of improved wellbeing after taking these and as they appear to have few side effects, most doctors will agree they are worth trying.
Reducing Damage to Mitochondria
Antioxidants, can prevent damage to mitochondria by neutralizing highly charged molecules called ‘free radicles’ in the cell.
Coenzyme Q10 (CoQ10, Ubiqinone)
CoQ10 is produced by our bodies but is also found in foods like meat, poultry, nuts and green leafy vegetables. CoQ10 plays a key role in transporting electrons between complexes I, II and III of the mitochondrial respiratory chain, so in patients with Mitochondrial Disease where these complexes are affected, supplementation it is believed to have a therapeutic effect.
Coenzyme Q10 is also has antioxidant properties which could in addition help prevent mitochondrial damage.
This is a synthetic version of CoQ10, but is designed to penetrate the nervous system more easily.
It works in exactly the same way as CoQ10, as a transporter of electrons and as an antioxidant.
Initial studies of idebenone have suggested some beneficial effect patients with Friedreich Ataxia and LHON and a trial in patients with MELAS is underway.
Riboflavin (Water soluble vitamin B2)
This vitamin is a key building block in Complex I and II, and also helps in stabilizing the mitochondrial membrane. Early studies have shown riboflavin may be helpful in treating mitochondrial diseases where there is complex I involvement, particularly if the complex I deficiency is the result of a mutation in the ACAD9 gene.
Other antioxidants that may be of benefit to mitochondrial patients include selenium, vitamin C, vitamin E, and lipoic acid.
Improving Energy generation
Creatine is a small molecule that helps supply the body with extra energy during times of high demand.
Creatine is made in the body but can also be found in red meats and fish. The highest concentrations in our bodies are found in tissues with the highest energy demands like muscle and brain.
Some patients have a deficiency of creatine and it has been suggested that a dietary supplement of creatine may benefit this group. Even in those without creatine deficiency, supplementation may have a role in improving muscle strength during activity although there have not yet been any long term studies undertaken.
Removing toxin build up
When a person has Mitochondrial Disease, their mitochondrial respiratory chain is blocked by one or more processes not working correctly. This block can lead to a build up of chemicals in the cells which can be toxic to the body and cause secondary problems.
Sodium Bicarbonate & Dichloroacetate
The most common example of toxin build up in Mitochondrial Disease is Pyruvate, which can accumulate outside the mitochondria if there is a problem in the respiratory chain. Our body then converts this pyruvate into lactic acid which itself can cause direct damage to tissues like the brain and muscle.
It is therefore beneficial to ensure that patients with Mitochondrial Disease should try and minimise the build up of lactic acid and sodium bicarbonate and/or dichloroacetate are both useful for achieving this goal.
In addition to lactic acid, other metabolites that normally feed into the respiratory chain can build up in the cells of people with mitochondrial diseases and cause problems.
Carnitine is a natural compound made in the body and can also be found in foods such as red meat, fish, poultry & milk. One of its roles is to clean up these extra metabolites by escorting them out of the cells and into the kidneys for excretion in the urine.
Carnitine deficiency has been observed in some patients with Mitochondrial Disease so it has been suggested that a dietary supplements might benefit this group.
Thiamine (Vitamin B1)
The use of thiamine has been established in the treatment of some forms of PDH deficiency and Kearns-Sayre syndrome but failed to demonstrate any benefit in a larger study of mitochondrial myopathies.