Rare Diseases 2022

Mitochondrial disease: what are they, causes, symptoms and treatment

Table of contents:

Mitochondrial disease: what are they, causes, symptoms and treatment
Mitochondrial disease: what are they, causes, symptoms and treatment
Anonim

Mitochondrial diseases are genetic and hereditary diseases characterized by the deficiency or decrease in the activity of mitochondria, not having enough energy production in the cell, which can result in cell death and, in the long term, organ failure.

Mitochondria are small structures present inside cells that are responsible for producing more than 90% of the energy needed for cells to perform their function. In addition, mitochondria are also involved in the process of formation of the heme group of hemoglobins, in the metabolism of cholesterol, neurotransmitters and in the production of free radicals. Thus, any change in the functioning of mitochondria can have serious he alth consequences.

Main symptoms

Symptoms of mitochondrial disease vary depending on the mutation, number of affected mitochondria within a cell, and number of compromised cells. Also, values ​​can vary depending on where the cells and mitochondria are located.

In general, the signs and symptoms that may be indicative of mitochondrial disease are:

  • Muscle weakness and loss of muscle coordination, as muscles require large amounts of energy;
  • Cognitive changes and brain degeneration;
  • Gastrointestinal changes, when there are mutations related to the digestive system;
  • Heart, eye, kidney or liver problems.

Mitochondrial diseases can appear at any time in life, however the earlier the mutation manifests, the more severe the symptoms and the higher the degree of lethality.

How the diagnosis is made

Diagnosis is difficult as symptoms of the disease may suggest other conditions. Mitochondrial diagnosis is usually only made when the results of commonly ordered tests are inconclusive.

The identification of mitochondrial disease is most often performed by physicians specializing in mitochondrial diseases through genetic and molecular tests.

Possible causes

Mitochondrial diseases are genetic, that is, they manifest themselves according to the presence or absence of mutations in mitochondrial DNA and according to the impact of the mutation within the cell. Every cell in the body has hundreds of mitochondria in its cytoplasm, each with its own genetic material.

Mitochondria present within the same cell can be different from each other, just as the amount and type of mitochondrial DNA can be different from cell to cell.Mitochondrial disease happens when within the same cell there are mitochondria whose genetic material is mutated and this has a negative impact on the functioning of the mitochondria. Thus, the more defective mitochondria, the lower the amount of energy produced and the greater the probability of cell death, which compromises the functioning of the organ to which the cell belongs.

How the treatment is done

Treatment for mitochondrial disease aims to promote the person's well-being and delay the progression of the disease, and the doctor may recommend the use of vitamins, hydration and a balanced diet. In addition, it is not advisable to practice very intense physical activities so that there is no energy deficiency to maintain the essential activities of the body. Thus, it is important that the person conserves his energy.

Although there is no specific treatment for mitochondrial diseases, it is possible to prevent the continuous mutation of mitochondrial DNA from being passed on from generation to generation.This would happen by combining the egg cell nucleus, which corresponds to the fertilized egg with the sperm, with he althy mitochondria from another woman, called a mitochondria donor.

In this way, the embryo would have the genetic material of the parents and the mitochondrial of another person, being popularly called a "three-parent baby". Despite being effective with regard to the interruption of heredity, this technique still needs to be regularized and accepted by ethics committees.

Popular topic