Mitochondrial dysfunction

Mitochondrial dysfunction is a group of pathological conditions that develop due to a disorder of cell energy and are characterized by lesions of the central nervous system, immune system, muscles, gastrointestinal tract, kidneys, and other internal organs.

Mitochondria are tiny structures located in almost all body cells. They are the parts of the cell that are responsible for energy synthesis. They do this by generating adenosine triphosphate (ATP), which is the main fuel for all body cells. For this reason, mitochondria are often called the "powerhouse" of the cell.

There can be up to several thousand mitochondria in a single cell. Brain and muscle cells are among those that need a lot of energy, so they have a particularly high density of mitochondria for their energy needs. When mitochondria function poorly, the body's cells function poorly accordingly.

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Symptoms

Signs of a mitochondrial disorder include the following:
    • Autism spectrum disorder.
    • Loss of coordination of movements, muscle weakness, and intolerance to physical activity.
    • Neurological problems, including epilepsy and epileptic activity on EEG.
    • Vision and/or hearing problems.
    • Delayed psycho-speech development, mental retardation.
    • Heart, liver or kidney disease.
    • Gastrointestinal disorders (constipation, diarrhea, constant nausea).
    • Diabetes mellitus.
    • Endometriosis.
    • Polycystic Ovarian Syndrome.
    • Respiratory disorders.
    • Reduced immunity, allergic reactions.
    • Thyroid and/or adrenal gland dysfunction.
    • Autonomic nervous system dysfunction.
    • Neuropsychological configurations or dementia, characterized by confusion, disorientation, and memory loss.
    • Psychotic disorders (schizophrenia, hallucinations, delusional disorders).
    • Depression, anxiety, obsessive-compulsive disorder.
    • Parkinson's Disease.
    • Asthma.
    • Chronic Fatigue Syndrome.
    • Alzheimer's disease.

If you notice any of these symptoms, contact the VIVERE CLINIC. Our physicians will perform a comprehensive examination, determine the cause of your condition and choose the most effective therapies. We don't treat the symptoms, we look for and treat the cause of the condition.

Causes of mitochondrial dysfunction

Mitochondria are unique in that they have their own DNA, called mitochondrial DNA, or mtDNA (containing 37 genes). Mutations in this mtDNA or in nuclear DNA (DNA found in the cell nucleus containing about 1,500 genes responsible for mitochondrial function) can cause the mitochondrial disorder. Environmental toxins, certain medications, infectious diseases, chronic or acute inflammation following vaccination can cause mitochondrial dysfunction.

Diagnosis

The diagnosis is based on the presence of a characteristic symptom complex (signs of connective tissue damage, recurrent episodes of impaired consciousness, vomiting, a poor family history, other symptoms) and the results of laboratory examination.

Brain imaging with magnetic resonance spectroscopy (MRS) can show elevated levels of lactate (which is a biomarker of mitochondrial dysfunction).
Information about the mitochondrial function can be obtained with a test called MitoSwab, which requires only a cheek swab. It can provide information about the mitochondrial function.
Also one of the leading tests is complete exome or genomic sequencing with an examination of mitochondrial DNA.

When testing for mitochondrial dysfunction, it is important to keep in mind that many of the tests available have varying sensitivity, meaning the results may look normal even if a person has mitochondrial dysfunction. The test may need to be repeated several times or during certain physiological conditions, such as starvation or illness. Because of this, the doctor may recommend treatment even if the test results are negative, especially if there are signs suggestive of mitochondrial dysfunction.

Any of the above examinations can be performed at our clinic on innovative equipment and in modern laboratories around the world, ensuring high accuracy of the data. A comprehensive examination allows our physicians to find the cause of the disorder and choose effective methods of correction, rather than just alleviate the symptoms.

Laboratory tests required for diagnosis:

  1. complete mitochondrial study;
  2. metabolic profile;
  3. lactate/pyruvate ratio;
  4. amino acids;
  5. ammonia;
  6. total and free carnitine;
  7. acylcarnitine profile;
  8. urine organic acids and others.

Лікарі можуть порекомендувати кілька кроків для підтримки функції мітохондрій. До них відносяться:

  • Обмеження періодів голодування збільшення частоти прийому їжі та виключення деяких продуктів харчування.
  • Уникнення мітохондріальних токсинів (наприклад, вальпроєвої кислоти, деяких препаратів, що знижують рівень холестерину, аміноглікозидних антибіотиків, ацетамінофену, метформіну, бета-блокаторів тощо).
  • Уникнення фізіологічних стресових факторів коли це можливо (інфекційні захворювання, хвороба, лихоманка, екстремальні температури, хірургічне втручання, анестезія, тривале голодування, забезпечення підтримуючої терапії в умовах фізіологічного стресу, L-аргінін).
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Prevention

Genetic screening can identify the causes and risk of dysfunction in the child.

Treatment

Doctors may recommend several steps to support mitochondrial function. These include:
    1. Limiting periods of fasting, increasing the frequency of meals, and excluding certain foods.
    2. Avoidance of mitochondrial toxins (e.g., valproic acid, some cholesterol-lowering drugs, aminoglycoside antibiotics, acetaminophen, metformin, beta-blockers, etc.)
    3. Avoidance of physiological stressors whenever possible (infectious diseases, fever, extreme temperatures, surgery, anesthesia, prolonged fasting, provision of maintenance therapy under physiological stress, L-arginine).
Certain vitamins and supplements may be recommended (and should be used under the supervision of a physician). It is important to work with your doctor to find the right treatment protocol for mitochondrial dysfunction. The types of supplements that may be helpful, their dosage, and the length of treatment should be determined by a qualified clinician. Some vitamins and supplements may have potential side effects if used incorrectly.

Recommendations

The younger the child, the easier the disease is corrected. Therefore, it is important to monitor your baby's condition from an early age and make an appointment with a specialist if any of these symptoms occur.

Mitochondrial dysfunction underlies many somatic disorders in adult patients as well, such as epilepsy, vision and/or hearing problems, constipation, diarrhea, persistent nausea, diabetes, autonomic nervous system dysfunction, schizophrenia, depression, anxiety, diseases. This is why it is imperative to be diagnosed to assess its severity. Treatment/correction of mitochondrial dysfunction in many cases helps to completely cure many somatic disorders.

Cost

Our clinic offers all necessary diagnostic and therapeutic procedures at optimal prices. The cost of the examination and subsequent therapy is calculated in each case individually, depending on the methods used. At the Vivere Clinic, a geneticist, a neurologist and a psychiatrist work with the patient.

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