Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.
Mitochondrial dysfunction is at the core of a surprising range of very common illnesses and conditions, and is a promising new avenue for their treatment. As the mitochondria are responsible for producing energy, any illness that has an energy problem could be related to the mitochondria. Diseases in which mitochondrial dysfunction have been implicated include: Alzheimer’s Dementia, Parkinson’s disease, Huntington Disease, Amyotrophic Lateral Sclerosis (ALS), mental retardation, deafness and blindness, diabetes, obesity, cardiovascular disease and stroke. Over 50 million people in the US suffer from these chronic degenerative disorders. While it cannot yet be said that mitochondrial defects cause these problems, it is clear that mitochondria are involved because their function is measurably disturbed. Even autoimmune diseases such as multiple sclerosis, Sjogrens syndrome, lupus and rheumatoid arthritis appear to have a mitochondrial basis to illness. Mitochondrial dysfunction has been associated with a wide range of solid tumors, proposed to be central to the aging process, and found to be a common factor in the toxicity of a variety of physical and chemical agents.
Diagnosis is usually made after a detailed medical history, in depth metabolic and nutrient testing, and sometimes a muscle biopsy.
- Developmental delays
- Neuro-psychiatric disturbances
- Autistic Features
- Mental retardation
- Atypical cerebral palsy
- Weakness (may be intermittent)
- Absent reflexes
- Neuropathic pain
- Dysautonomia – temperature instability & other dysautonomic problems
- Muscle pain
- Gastrointestinal problems
- Irritable bowel syndrome
- Gastroesophogeal reflux
- Diarrhea or constipation
- Renal tubular acidosis or wasting
- Cardiac conduction defects (heart blocks)
- Hypoglycemia (low blood sugar)
- Liver failure
Eyes and Ears
- Visual loss and blindness
- Ptosis (drooping eyelids)
- Optic atrophy
- Hearing loss and deafness
- Acquired strabismus
- Retinitis pigmentosa
Pancreas and other glands
- Diabetes and exocrine pancreatic failure (inability to make digestive enzymes)
- Parathyroid failure (low calcium)
- Failure to gain weight
- Unexplained vomiting
- Short stature
- Respiratory problems
Think mitochondrial disease when three or more organ systems are involved