Mitochondrial diseases- clinically undefined




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.

There are close to 40 different types of mitochondrial diseases.

Source: umdf


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
  • susceptibility to infection

Source: umdf


Mitochondrial diseases are the result of either inherited or spontaneous mutations in mtDNA or nDNA which lead to altered functions of the proteins or RNA molecules that normally reside in mitochondria. Problems with mitochondrial function, however, may only affect certain tissues as a result of factors occurring during development and growth that we do not yet understand. Even when tissue-specific isoforms of mitochondrial proteins are considered, it is difficult to explain the variable patterns of affected organ systems in the mitochondrial disease syndromes seen clinically.

Source: umdf


For many, mitochondrial disease is an inherited genetic condition, while for others the body's mitochondria can be affected by other environmental factors.

Source: umdf



Mitochondrial diseases are difficult to diagnose. Referral to an appropriate research center is critical. If experienced physicians are involved, however, diagnoses can be made through a combination of clinical observations, laboratory evaluation, cerebral imaging, and muscle biopsies. Despite these advances, many cases do not receive a specific diagnosis.

Most hospitals do not have a metabolic laboratory and therefore can run only the most basic tests. However, most hospitals will send specimens to any laboratory in the country. Not all laboratory tests are required for all patients, and your physician may decide that some of these tests are not necessary. In addition, a single blood or urine lab test with normal results does not rule out a mitochondrial disease. This is true for organic acids, lactic acid, carnitine analysis and amino acid analysis. Even muscle biopsies are not 100% accurate.

Source: umdf


As more research dollars are raised to find more effective treatments and ultimately a cure, some of the affected children and adults are living fairly normal lives with mitochondrial disease. At the opposite end of the spectrum, many are severely affected, and some children do not survive their teenage years.

Source: umdf


At this time, there are no cures for these disorders!

Goals of treatment

note: goals may never be met

  • alleviate symptoms
  • slow down the progression of the disease

Effectiveness of treatment

  • varies from patient to patient, depending on the exact disorder and the severity of the disorder
  • as a general rule, those with mild disorders tend to respond to treatment better than those with severe disorders
  • in some circumstances, the treatment can be tailored specifically to the patient, and that treatment is effective, whereas in other circumstance, the treatment is "emperic", meaning that the treatment makes sense, but that the benefit of treatment is not obvious or proven to be effective
  • treatment will not reverse the damage already sustained, such as brain malformations
  • Benefits of Treatment and Effectiveness of Therapies Vary
  • treatment may be beneficial and noted immediately in some disorders
  • benefit of treatment may take a few months to notice
  • benefit of treatment may never be noticed, but the treatment may be effective in delaying or stopping the progression of the disease
  • some patients may not benefit from therapy

Source: umdf


Never forget there is standard treatment for some symptoms (anticonvulsant medication for epilepsy, physical therapy for motor problems, etc.)

  • Dietary
  • Vitamins and supplements
  • Avoidance of stressful factors and toxines as alcohol

Treatment must be tailored by the patient's physician to meet that patient's need. Many of these therapies are totally ineffective in some mitochondrial disorders and would be a waste of time, money and effort. In some cases, the treatment could be dangerous.

Source: umdf