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Cell problems can be the cause of excessive tiredness and even diabetes

Cell problems can be the cause of excessive tiredness and even diabetes

Mitochondrial disease or dysfunction is a problem of energy production. Almost every cell in the body has one or more mitochondria, small "power plants" that produce the essential energy for the body. They are small organs (organelles) located within the cytoplasm of the cell, which produce their own genetic material - mitochondrial DNA. Several diseases occur when genes in this type of DNA undergo some change.

From a scientific point of view, it is a category or group of diseases. The disorder is multi-systemic, can affect more than one type of cells, tissues and organs, so the symptoms and signs of mitochondrial diseases are not identical in all affected, since each carrier has a unique combination of mitochondria - some healthy, others defective - as well as their distribution through the body.

Making an analogy to the power plant that provides energy to a large community with different levels of energy needs: in the same way, mitochondria provides energy to various organs of the body. Thus, where there is mitochondrial dysfunction, a total blackout, such as Leigh's disease, severe and fatal, or a minor energy breakdown, can result in a severe but non-fatal health problem. What happens to the body?

Brain and muscles demand a high amount of energy, so mitochondrial disease typically affects these parts of the body, causing encephalomyopathies (diseases of the brain and muscles). Other organs commonly affected, at different severity levels, are: eyes, hearing aid, heart, liver, gastrointestinal tract, liver, kidneys, endocrine organs and blood.

Depending on which cells in the body are affected, symptoms may include :

Slow growth

  • Loss of muscle coordination, muscle weakness
  • Vision and / or hearing problems
  • Developmental delay, learning disabilities
  • Intellectual deficiency
  • Heart disease, liver or kidneys
  • Gastrointestinal disorders, severe constipation
  • Respiratory problems
  • Diabetes
  • Increased risk of infections
  • Neurological problems, convulsions
  • Thyroid dysfunctions
  • Dementia
  • children with mitochondrial diseases often have energy surges and then become lethargic and find it difficult to concentrate. It is essential to understand that these periods of fatigue are not due to the child's personality, but rather to the total exhaustion that comes from their cellular depths.

Problems range from constant difficulties to thinking, remembering, moving, severe physical disabilities and mental. And all of this can vary between good and bad days, due to a significant inconsistency of energy production within the cells.

Mitochondrial disease can appear at any age, although one has the impression that it occurs at the child's birth . For some people, mitochondrial disease develops over time and sometimes, for reasons ranging from a lack of doctors to a lack of public awareness, this disease is never diagnosed.

In the last 10 years, with advances in genetics and molecular biology, we have a better understanding of the complexity of mitochondrial diseases. Even so, the cause (or causes) of the picture remains unclear and is still being studied.

How are mitochondrial diseases diagnosed?

It is important that the patient is evaluated in health centers with proven experience, because mitochondrial diseases are difficult to diagnose. In some cases, symptoms and signs may suggest a specific mitochondrial disease. Physical examination and laboratory tests are necessary to characterize the involvement of various organs and arrive at the correct diagnosis. Laboratory studies include: blood tests, brain and heart exams, neurological, ophthalmologic, and hearing assessments.High levels of lactic acid in the blood or cerebrospinal fluid is a common sign of mitochondrial dysfunction. Muscle biopsy is one of the standard tests for the diagnosis of DM, which requires special microscopic analyzes and biochemical tests (such as measurements of the activity of mitochondrial respiratory chain enzymes).

Finally, genetic tests of blood, urine or muscles are performed to accurately detect the genetic mutation responsible for a particular mitochondrial disease.

What are the treatments for mitochondrial disease?

Treatments are limited and therapies to treat specific symptoms and signs of mitochondrial diseases are very important. For example, in mitochondrial patients, epilepsy usually responds to anti-convulsant drugs and insulin and other conventional treatments are effective for diabetes mellitus.

Nutritional supplements like vitamins and cofactors are important for patients with mitochondrial diseases and much more useful in patients with specific deficiencies: for example, supplementation with Coenzyme Q10 is very effective in patients with deficiencies of this coenzyme.

A way to prevent mitochondrial disease

Recently approved in the UK, the fertilization technique in which involves the genetic manipulation of three-person cells can help eliminate mitochondrial disease by switching the affected mitochondrial DNA from the mother to that of an anonymous donor.

The baby will have - from the technical point of view - three parents with 99.8% genetic material from the mother and the father and 0.2% from the mitochondria of the egg donor. The technique basically consists of replacing the mitochondria contained in the mother's egg with healthy mitochondria taken from a donor's egg.

About 100 children each year in the United Kingdom are affected by genetic defects in their mitochondria and, on average , 10 of these cases suffer from severe illnesses such as liver failure, muscle loss, blindness, and brain damage.

Since mitochondrial DNA is transmitted to the child through the maternal line, affected women will certainly pass these genetic defects to their children , leaving many of them agonized over the decision whether or not to have biological children. In the future, scientists hope that these women can be spared from making that choice.

Heteroplasmia

Heteroplasmy is the presence of more than one type of mitochondrial DNA in a person's cells. That is, the patient presents two different lineages of mitochondria in his organism. This type of change is usually responsible for the severity of the disease. The greater the number of altered mitochondria in relation to the normal ones, the more serious is the patient's clinic.


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