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Mitochondrial Disease - Know More About It

By Faraz Ahmed
Oct 28, 2008
Mitochondrial Disease is, at heart, a disease of energy deficiency. Or in other words we can say that the mitochondrial disease robs the body of the energy it needs to survive. The mitochondria; tiny organelles living inside our cells, are responsible for converting food and oxygen into energy. Mitochondrial disease is thought to be linked to Parkinson's, diabetes, Alzheimer's and heart disease. It is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function. The incidence affects about 1 in every 3000-4000 people. Thus the mitochondrial disease is a rare disease.

Mitochondria are responsible for creating more than 90 percent of the energy needed by the body to sustain life and support growth. Because they are in almost all human cells, this "power failure" results in disease that can affect almost any body tissue. Mitochondrial diseases starve the body of necessary energy to function properly.

Mitochondrial disease is thought of by clinicians as a fatal disease of infancy, not one that occurs later in life. It is usually thought of as a fixed, structural disease, and ME/CFS is a relapsing, remitting illness with some persons even becoming entirely well. Mitochondrial disease is inherited differently from other diseases. For all other cases and cells (except for sperm and egg), the nuclear DNA has two copies per cell, one is inherited from the father while the other is inherited from the mother. Sadly this disease is a progressive and life threatening condition and has no cure.

Mitochondrial disease is not a single entity but, rather, a heterogeneous group of disorders characterized by impaired energy production due to genetically based oxidative phosphorylation dysfunction. Together, these disorders constitute the most common neurometabolic disease of childhood with an estimated minimal risk of developing mitochondrial disease of 1 in 5000.

Symptoms vary widely from patient to patient; in many cases, the disease is inherited. Researchers estimate that every 15 minutes a child is born with mitochondrial disease or will be diagnosed with mitochondrial disease by the age of 10. Most affected children do not live beyond their teenage years.

As mentioned before mitochondrial disease is one of those diseases that have no cure. But some helpful treatments include vitamins such as thiamine (B1), riboflavin (B12), vitamin C, and vitamin E. Lipoic acid and coenzyme Q-10 are also useful supplements. Also Pyruvate or Pyruvic acid which plays an important role in biochemical processes is being considered as a treatment option by researchers.
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