Medically, mitochondrial disease is a category of different diseases grouped together. These different diseases present in different forms and vary widely with no two patients presenting with the same symptoms.
The symptoms appear similar to quite a few diseases, including Alzheimer’s disease, autism, chronic fatigue, Lou Gehrig’s disease, muscular dystrophy, and Parkinson’s disease. Mitochondrial weakness at the sub-clinical state also mimics conditions such as liver sluggishness, extracellular matrix congestion, as well as the previously mentioned adrenal gland diseases like Adrenal Fatigue Syndrome (AFS).
When the mitochondrial system is malfunctioning then it can be fatal, such as Leigh’s disease. This affects one in 25,000. Most mitochondrial dysfunction are not fatal, but living a normal and vibrant lifestyle can be severely compromised. One in 2,500-3,000 people are affected in some way by mitochondrial disease.
Each mitochondrion is an energy factory within the cell. Sugars and fats are imported, broken down, converted and exported as ATP. This highly complex process requires various special protein complexes at different stages for fruition. Mitochondrial diseases are caused by genetic mutations, resulting in deficiencies in one or more of the protein complexes required to make ATP. When a cell is filled with defective mitochondria, not only does it become deprived of ATP, but it can also accumulate a backlog of unused fuel molecules and oxygen. Potentially harmful byproducts such as lactic acid can accumulate. A state of lactic acidosis can result and symptoms can be mild to severe. They include muscle fatigue, aches, and cramps. Meanwhile, unused oxygen in the cells can be converted into highly destructive compounds called reactive oxygen species, including free radicals that cause oxidative stress.
ATP made from mitochondria provides the predominant source of power for muscle cells to contract and supports proper nerve cell firing. The combination of reduced energy availability with mitochondrial diseases and resulting free radical accumulation in these cells can also give rise to subtle signs and symptoms such as brain fog, joint pain of unknown origin, psoriasis, and fatigue.
When the mitochondrion fails, energy production slows down inside the cell, which is harmful and can even cause the cell to die off. Symptoms all depend on which cells in the body have the malfunctioning mitochondria. 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.
Mitochondrial disease or adrenal gland diseases can make their appearance at any age. In many people, these diseases are not even diagnosed, as there is a lack of awareness in the medical community and in the public at large.
There are as many as 3,000 genes that make up one single mitochondrion. In addition to energy production, mitochondria are what contain the rate-controlling enzymes for the biosynthesis of pyrimidine (dihydroorotate dehydrogenase) and the synthesis of heme (D-aminolevulinic acid synthase). In the liver, mitochondria work in a specialized manner to detoxify ammonia, which forms in the urea cycle. Mitochondria are also needed to metabolize cholesterol, for the synthesis of testosterone and estrogen, to metabolize neurotransmitters and for the production and detoxification of free radicals. They perform all of these functions as well as metabolizing or oxidizing the fat, carbohydrates and protein we consume.
Since mitochondria are responsible for performing so many varied and different functions in all the different bodily tissues, there are hundreds of different kinds of mitochondrial diseases and disorders. Every single one has its own spectrum of abnormalities. This is very confusing to patients and physicians alike, especially when trying to diagnose the problem.
Because of the complexity of the interactions between the hundreds of cells and genes that all must work together to keep our metabolic systems running well, it is a feature of mitochondrial disease that the identical mtDNA mutations may not necessarily result in the same diseases. Genocopies are diseases caused by the identical mutation, but may not look identical clinically.
The opposite is also true: different DNA mutations can progress to the exact same diseases. These diseases are known in genetics as phenocopies. A solid example of this phenomenon is Leigh syndrome, a fatal disease that can actually be caused by perhaps a dozen very different genes.
Unfortunately, there isn’t a single test developed yet to diagnose mitochondrial disease in the majority of patients. In today’s medical environment oxidative phosphorylation (OXPHOS) enzymology alone is not sufficient for an accurate diagnosis.
Mitochondrial disease is diagnosed by using an integrated approach with multiple means and a detailed history, which would include:
An alert physician with experience in orthomolecular medicine is usually required for a proper diagnosis as it is rare that genetic testing would be adequate for an accurate diagnosis of the disease.
There are three different categories of diagnostic criteria:
Diagnosis is considered positive if two or more tests from two categories show abnormal results.
Defective mitochondria produce large quantities of oxygen free radicals. Comparing patients who have a mitochondrial disorder with healthy people, researchers have found that their blood glutathione level was significantly reduced in white blood cells from mitochondrial diseased patients. This indicates a low level of antioxidant defenses. Measuring blood glutathione levels can be used as a biomarker to monitor the mitochondrial disorders or adrenal gland diseases.
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© Copyright 2015 Michael Lam, M.D. All Rights Reserved.
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