Mitochondriopathies are diseases of the mitochondria. These are located in almost every cell in the body and supply the body with energy. The characteristics and symptoms of mitochondriopathy can vary greatly.
What is mitochondriopathy?
Mitochondria are small cell organelles. Important metabolic processes take place in them. In the respiratory chain, for example, energy is obtained in the form of adenosine triphosphate (ATP). Mitochondriopathy is a disorder in the proteins of the cell organelles. As a result, not so much energy can be gained. In particular, the brain and eyes are affected in mitochondriopathy. The disease can be acquired or congenital. However, there are also smooth transitions between the two forms. See ablogtophone for AMGS which stands for Abnormal Mammary Gland Secretion.
Mitochondriopathy is caused by damage or dysfunction of the mitochondria. Hereditary mitochondriopathy is caused by gene mutations. These affect the enzymes and metabolism of the mitochondrion. The genetic defects are already present at birth. Mutations in mitochondrial DNA are only inherited from the mother. If the mitochondriopathy is nuclear encoded, the disease can be inherited in an autosomal dominant, autosomal recessive or X-linked manner.
The first symptoms usually appear in childhood or adolescence. In the case of acquired mitochondriopathies, it is assumed that the cell organelles lose their function due to environmental influences. What environmental influences these are, however, has not yet been clarified. Mixed forms are also common. This means that there is a hereditary predisposition, but this is only activated by environmental influences.
The main task of the mitochondria is to generate energy by burning fatty acids, breaking down acetyl-CoA and by oxidative phosphorylation. The mutations lead to disturbances during the citric acid cycle or during fatty acid oxidation. As a result, less energy is available. Since the enzymes in the respiratory chain that can be affected in mitochondrial disease are tissue-specific, only one or two organs can be affected by the disease.
Symptoms, Ailments & Signs
More than fifty enzymes within the mitochondria can be affected by mitochondriopathy. Since each of these enzymes takes on different tasks, the symptoms are correspondingly diverse. However, there are typical symptom constellations.
Eye movement disorders occur in chronic progressive external ophthalmoplegia (CPEO). The eyelids droop (ptosis). This form of mitochondriopathy only begins between the ages of 20 and 40. If there is also paralysis of the extraocular muscles and polyneuropathies or growth disorders, ophthalmoplegia plus (CPEOplus) is probably present.
This form often transitions smoothly into the Kearns-Sayre syndrome (KSS). In addition to the symptoms of CPEO, heart muscle diseases or changes in the retina also occur here. The disease of the heart muscle is characterized by conduction disturbances. Another form of mitochondrial disease is myoclonus epilepsy with ragged red fibers (MERRF). Myoclonic epilepsy develops with progressive dementia and muscle weakness. The disease usually begins between the ages of 5 and 15.
Patients with the MELAS syndrome are often of short stature and suffer from migraines and/or diabetes mellitus. The onset of the disease is also between 5 and 15 years. The name MELAS syndrome refers to the typical clinical symptoms: mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. Leber ‘s Optic Atrophy (LHON) is damage to the optic nerve with changes in the retina.
Painless vision loss occurs here from the age of 20. Leigh syndrome manifests itself in the second or first year of life. The affected children are mentally retarded and suffer from muscle weakness. In addition, there is damage to the brainstem, which manifests itself in swallowing disorders or eye movement disorders.
Diagnosis & course of disease
Laboratory findings provide information about mitochondriopathy. This is where lactic acidosis becomes visible. This is lactic acid overload caused by disruption in the citric acid cycle. In the context of metabolic diagnostics, the organic acids in the urine and the amino acids in the blood serum are also determined. If the suspicion of mitochondrial disease is confirmed here, a muscle sample can be taken by means of a muscle biopsy. The diagnosis can be confirmed here by detecting so-called ragged red fibers. Detection is by Gömöri trichrome staining.
Those affected usually suffer from various complaints as a result of mitochondriopathy. In most cases, the disease causes sufferers’ eyelids to droop severely, resulting in diminished aesthetics. This can have a negative effect on self-esteem and also lead to inferiority complexes. As a rule, the quality of life is significantly reduced by mitochondriopathy.
It is also not uncommon for growth disorders and paralysis of the eye muscles to occur. Diseases of the heart muscle also occur, which in the worst case can be fatal. Those affected appear tired and exhausted and often suffer from migraines. The risk of a stroke also increases enormously, so that the life expectancy of the patient is also significantly reduced by mitochondrial disease.
This leads to muscle weakness and thus to reduced resilience. It is not uncommon for swallowing difficulties to lead to difficulties in taking food and liquids. A causal treatment of mitochondriopathy is not possible. Those affected are therefore dependent on a special diet and must avoid anxiety-provoking activities. This leads to various restrictions in everyday life.
When should you go to the doctor?
Irregularities in eye movements are signs of an existing disorder. If the symptoms persist for a long time or if they increase in intensity, a doctor’s visit must be made. Since the disease begins at the age of 20, the onset of symptoms is particularly alarming in young adulthood. If there are optical changes in the shape of the eyes, there is cause for concern. If you have drooping eyelids or problems with your vision, you need to see a doctor. If the person concerned suffers from paralysis of the eye muscles, a doctor should be consulted. Growth disturbances and discrepancies in the heart rhythm are further indications of a health impairment in the organism.
If the person concerned has the feeling that the activity of the heart is not sufficient or if it comes to shortness of breath, a doctor’s visit is advisable. General muscle weakness, low performance and memory problems should be examined by a doctor. Swallowing disorders, short stature or an existing diabetes disease should be discussed with a doctor. If the person concerned notices further irregularities, a check-up is recommended in order to intensively check the general state of health. Reduced vision from young adulthood can be based on damage to the retina caused by mitochondrial disease. Those affected are therefore strongly recommended to consult a doctor as well as an optician.
Treatment & Therapy
Mitochondriopathies are usually hereditary, so that no causal therapy is possible. Energy production is severely restricted in mitochondriopathy. Therefore, those affected should consume as much energy as possible in the form of fats and glucose. Adequate intake of minerals and water should also be ensured. Any physical condition that results in increased energy consumption should be avoided as far as possible. This includes, for example, sports.
But increases in temperature also go hand in hand with increased energy requirements. Fever should therefore always be reduced in patients with mitochondrial disease. Seizures also consume a lot of energy. Consistent therapy is required here. However, no drugs may be used that inhibit the respiratory chain. The respiratory chain is already impaired in mitochondriopathy anyway and cannot tolerate any further restrictions. A very strong lactic acid overload can also be treated with buffer substances. Vitamins and cofactors can be used to support this.
Outlook & Forecast
Patients with mitochondriopathy cannot be cured so far. A prognosis for those affected depends above all on how early the first of the typical symptoms appear, how quickly the disease progresses and how severe the seizures are. However, life expectancy and quality of life can be improved with appropriate therapy.
Whether a therapy helps and which treatment is indicated for mitochondrial disease is very different for each patient and also requires constant care by specialists who specialize in this disease. Symptoms of the disease usually appear in adolescence or early adulthood. Nevertheless, infants can also be affected by the disease. The earlier those affected become ill, the faster the disease usually progresses.
In addition, the symptoms in this case are often more severe than in patients who become ill much later. In these cases, the disease usually progresses more slowly and with significantly milder symptoms. However, very violent and rapid courses are also possible in younger adults. Therapy options have increased significantly in recent years. Thanks to newly researched methods in which the genetic material is analyzed, it can be expected that many mitochondrial diseases can be better treated in the coming years.
In a large number of cases, mitochondriopathy is hereditary. Therefore there is no effective prevention. However, some of the mitochondriopathies are also favored by environmental influences. Since it has not yet been finally clarified which environmental influences can have a negative impact, there are currently no prevention proposals here either.
The treatment of mitochondriopathies must be continued permanently. Follow-up care focuses on providing patients with the necessary therapeutic support. In addition, the intake of medication must be checked and adjusted regularly. Patients must periodically consult the doctor.
The current state of health is discussed with the doctor. Any symptoms must be clarified and alleviated by adjusting the therapy. Follow-up care also includes constant adjustment of diet. Since metabolic fluctuations occur in mitochondriopathy, various values such as pulse and blood pressure must be measured again and again.
Concomitantly, treatment with supplements should be monitored. The responsible nutritionist checks the effectiveness of the prescribed vitamins and adjusts the dose if necessary. Which measures are useful and necessary as part of the aftercare depends on the respective symptom picture. In principle, neuromuscular symptoms must be monitored in order to detect complications at an early stage.
Further follow-up steps depend on the usually very variable course of the disease. Mitochondriopathies progress rapidly, which is why most patients require medical attention several times a month. In severe cases, ongoing therapy is necessary.
You can do that yourself
Mitochondriopathy cannot be treated causally. However, symptomatic therapy can be supported by a number of strategies and measures.
If a fever occurs, appropriate measures must be taken to lower the body temperature. Classic methods such as cooling pads or yoghurt wraps have proven their worth. A short walk in the fresh air can also help, as long as the outside temperature is not too low. In the event of seizures, a doctor should always be consulted. Accompanying this, first aid measures must be taken to reduce the risk of injury from falls and the cramps themselves. If possible, the affected person should lie on their back and gently massage the cramping part of the bodycalm. If the cramp occurs in several limbs, heat treatments can help. The symptoms usually subside after a few minutes if the affected muscles are consistently calmed and relaxed.
A good household alternative is St. John’s wort oil. The herbal remedy helps with mild cramps in the muscles and contributes to overall relaxation. Vitamins and minerals provide support. If the symptoms last longer than usual or unusual symptoms appear, a doctor should be consulted.