What are mitochondrial diseases?

• Mitochondrial diseases are chronic (long-term), genetic, often inherited disorders that occur when mitochondria fail to produce enough energy for the body to function properly. Mitochondrial diseases can be present at birth, but can also occur at any age.
• Mitochondrial diseases can affect almost any part of the body, including the cells of the brain, nerves, muscles, kidneys, heart, liver, eyes, ears or pancreas.
• Mitochondrial dysfunction occurs when the mitochondria don’t work as they should due to another disease or condition. 
• Many conditions can lead to secondary mitochondrial dysfunction and affect other diseases, including Alzheimer’s disease, muscular dystrophy, Lou Gehrig’s disease, diabetes and cancer. 

The ability of cells to produce high-energy molecules such as ATP(adenosine-5-triphosphate) is directly related to the ability of mitochondria to convert the energy of metabolites to reduced nicotinamide adenine dinucleotide (NADH) and transfer electrons from NADH to the electron transport chain and to molecular oxygen while pumping protons from the mitochondrial matrix across the inner mitochondrial membrane to the inter-membrane space.

A consequence of this electron transport process is the production of reactive oxygen species (ROS) and reactive nitrogen species (RNS), highly reactive free radicals that are produced as a by-product of oxidative phosphorylation. These free radicals can damage cellular lipids, proteins, and even DNA.

Some enzymes and antioxidants can control excess amounts of ROS/RNS.

In addition to creation of ROS/RNS, the electron transport process can induce reduced ATP production while it still consumes excess oxygen.

• Mitochondrial dysfunction is directly related to excess fatigue (loss of overall energy and an inability to perform even simple tasks). Although mild fatigue can be caused by a number of conditions, including depression and other psychological conditions, moderate to severe fatigue involves cellular energy systems.
• At the cellular level, moderate to severe fatigue is related to loss of mitochondrial function and diminished production of ATP.
• Fatigue lasting more than 6 months that is not reversed by sleep (chronic fatigue) is the most common complaint of patients seeking general medical care.

What are the symptoms of mitochondrial diseases?

Symptoms of mitochondrial diseases depend on which cells of the body are affected. Symptoms can range from mild to severe, involve one or more organs and can occur at any age.

Symptoms can include:

* Poor growth.

* Muscle weakness, muscle pain, low muscle tone, exercise intolerance.

* Vision and/or hearing problems.

* Learning disabilities, delays in development, mental retardation.

* Autism, autism-like features.

* Heart, liver or kidney diseases.

* Gastrointestinal disorders, swallowing difficulties, diarrhea or constipation, unexplained vomiting, cramping, reflux.

* Diabetes.

* Increased risk of infection.

* Neurological problems, seizures, migraines, strokes.

* Movement disorders.

* Thyroid problems.

* Respiratory (breathing) problems.

* Lactic acidosis (a buildup of lactate).

* Dementia.

Special attention we put to our children.

Keep a note at those symptoms as they indicate the problems with mitochondrial health.

• If the child does not jump.
• If the child cannot stand on one leg.
• If the child cannot hang holding on to your fingers.
• If motor skills are impaired.
• If the child gets tired quickly while walking.
• If he has a hard time chewing solid food.
• On examination, the skin and joints are overly elastic and the muscles have a reduced tonus.When you touch the hand and fingers, the fingers will be very soft.

If a child has signs of mitochondrial problems exercise therapy and massage will not be very effective.

Strategies to optimize mitochondrial function:

• Decrease toxins exposure. This is important in general for optimal health, but mitochondria especially susceptible for that.
• Provide nutrients protecting from oxidative stress.
• Take care of proper utilization of nutrients that facilitate ATP production (proper work of digestive tract).
• Build muscle mass. Strength training increases ATP production even in those with mitochondrial damage ( for example Parkinson’s disease)
• Intermittent fasting can boost mitochondrial function and keep the metabolic flexibility.

Mitochondrial supportive nutrients :

• Vitamins
• CoQ10 (important intra-mitochondrial antioxidant right where those ROS are being produced),
•  α-lipoic acid + acetyl-l-carnitine (These nutrients have been used together to increase mitochondrial ATP production), 
• Resveratrol (increases mitochondrial ATP production, protects from ROS, up-regulates sirtuin 1), 
• NAC (the key role of NAC is to increase intracellular glutathione, which is then pumped into the mitochondria. This glutathione is critical for protection of mitochondria from oxidative damage), 
• Vitamin E (antioxidant vitamin E protects mitochondria from oxidative stress)
• Pyrroloquinoline quinone (PQQ) (have been reported to improve mitochondrial respiratory control or stimulate mitochondrial biogenesis) 

The consideration of implementation of mentioned nutrients and their dosage should be discussed with doctor.