Mitochondrial Disease / Treatments

What are Mitochondria?

• Mitochondria are tiny organelles found in every cell in the body except Red Blood Cells
• Mitochondria are known as the "Powerhouse of the cell."
• Mitochondria are responsible for creating more than 90 percent of cellular energy which is necessary for the body to sustain life and support growth.
• Mitochondria turn Nutrients into cellular energy in the respiratory chain cycle.
• Mitochondria have their own independent Genome (Mitochondrial DNA or mtDNA) that was likely derived from early bacteria.
• Mitochondrial failure causes cell injury that leads to cell death. When multiple organ cells die, organs begin to fail.

What is Mitochondrial Disease?

• Mitochondrial disease is a Chronic, Genetic Disorder that occurs when the Mitochondria of the cell fail to produce enough energy for cell or organ function.
• Many forms of Mitochondrial disease are known, arising from defects in both the mtDNA and the cell's Nuclear DNA (nDNA).
• Mitochondrial disease can be inherited in several ways.
• Mitochondrial disease often presents very differently from individual to individual.
• One individual in a family or many individuals affected over a number of generations may be affected.
• Much of what we know about these diseases has been discovered since 1940. In 1962, the first patient was diagnosed with a mitochondrial disorder. In 1963, researchers discovered that Mitochondria have their own DNA or "Blueprint" (mtDNA), which is different than the nuclear DNA (nDNA) found in the cells' nucleus.
• Infants, children, and adults may develop Mitochondrial Disorders. Experts in Mitochondrial medicine describe a spectrum of disease, ranging from mild to severe. 1 in 4,000 people are estimated to have a genetically confirmed primary Mitochondrial Disease, yet many remain undiagnosed.
• In adults, many diseases of ageing have been found to have defects of mitochondrial function, including, but not limited to, Diabetes, Parkinson's disease, Huntington's disease, Atherosclerotic Heart disease, Stroke, Alzheimer's disease, Amyotrophic Lateral Sclerosis (ALS), Autoimmune disorders, Environmental Toxicities and Cancer.

What are the Symptoms of Mitochondrial Disease?

The severity of Mitochondrial Disease symptoms is different from person to person. The most common symptoms are:

• Poor growth and failure to thrive (in children)
• Loss of muscle coordination, muscle weakness and pain, low tone, exercise intolerance
• Neurological problems, seizures
• Autism, Autistic spectrum, Autism-like features
• Visual and/or Hearing problems
• Developmental delays, Learning disabilities
• Movement disorders
• Internal organs: Heart, Liver or Kidney disease
• Gastrointestinal disorders: Constipation, Diarrhea, Swallowing difficulty, repeated Vomiting, Cramping, Reflux
• Diabetes
• Increased risk of infection
• Neurological issues, including difficult to treat seizures, migraines, and stroke or stroke like events
• Thyroid and/or Adrenal Dysfunction
• Autonomic Dysfunction (functioning of the Heart, Bladder, Intestines, Sweat glands, Pupils and blood vessels)
• Respiratory issues
• Lactic acidosis (the buildup of lactate in the body, which results in an excessively low pH in the bloodstream)
• Neuropsychological changes characterized by Confusion, Disorientation, Dementia, and Memory loss.

How is Mitochondrial Disease Diagnosed?

No reliable and consistent means of diagnosis currently exist. The road to diagnosis is often personalized based on symptoms. Clinicians are working to create diagnostic and treatment standards for Mitochondrial Medicine.

• Non- invasive method with Bio-Resonance Diagnostic in Screening Examination
• DNA testing and/or Muscle Biopsy.
• Evaluating the patient's family history performing a complete physical examination
• Performing a Neurological examination Performing a metabolic examination that includes Blood, Urine and optional Cerebral Spinal Fluid Tests
• Performing other tests, depending on the patient's specific condition and needs. These tests might include:
  • Magnetic Resonance Imaging (MRI) or scan (MRS) if Neurological symptoms are present
  • Retinal exam or Electroretinogram if vision symptoms are present
  • Electrocardiogram (EKG) or Echocardiogram if Heart disease symptoms are present
  • Audiogram or BAEP if Hearing symptoms are present
  • Blood test to detect Thyroid Dysfunction if Thyroid problems are present
  • Blood test to perform Genetic DNA testing
  • More invasive tests, such as a skin or muscle biopsy, might be performed as needed.

How is Mitochondrial Disease Treated?

Even though a cure for Mitochondrial Disease has not been discovered, many clinical trials are underway to evaluate new therapies. Physicians specializing in Metabolic Diseases have found that every child and adult is Biochemically different, meaning that no two people will respond to a particular treatment in a specific way, even if they have the same disease. Therefore, treatment is individualized for each patient and type of Mitochondrial Disease.
Mitochondrial patients may become ill more quickly and more severely than other people because of a lower cellular reserve of energy.

• Coenzyme Q10
• Antioxidants
• Alpha Lipoic Acid
• B 1,2,3,6,12 Vitamins complex
• Arginine
• Folinic Acid
• L-Carnitine
• Vitamin C
• Diet therapy: as prescribed by your doctor
• Exercise and Yoga: Physical activity intolerance is common with Mitochondrial Disease, but even patients who have a difficult time exercising should still be encouraged to do exercise.

Important: Consult with your physician before beginning or altering any medication, Vitamin or Supplement regimen.