- Causes of Mitochondrial Disease
- Main symptoms
- How the diagnosis is made
- Treatment for Mitochondrial Disease
Mitochondrial diseases are genetic and hereditary diseases characterized by deficiency or decreased activity of mitochondria, with insufficient energy production in the cell, which can result in cell death and, in the long term, organ failure.
Mitochondria are small organelles present within cells and 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 forming the heme group of hemoglobins, in the metabolism of cholesterol and neurotransmitters and in the production of free radicals. Thus, any change in the functioning of mitochondria can have serious health consequences.
Causes of Mitochondrial Disease
Mitochondrial diseases are genetic, that is, they manifest according to the presence or absence of mutations in the mitochondrial DNA and according to the impact of the mutation within the cell. Each cell in the body has hundreds of mitochondria in its cytoplasm, each with its own genetic material.
The mitochondria present within the same cell may differ from each other, just as the amount and type of DNA in the mitochondria may differ from cell to cell. Mitochondrial disease happens when inside 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 less energy is produced and the greater the probability of cell death, which compromises the functioning of the organ to which the cell belongs.
Main symptoms
The symptoms of mitochondrial diseases vary according to the mutation, the number of mitochondria affected within a cell and the number of cells involved. In addition, they can vary according to 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, since the muscles need a lot of energy; Cognitive changes and brain degeneration; Gastrointestinal changes, when there are mutations related to the digestive system; Cardiac, ophthalmic, renal or liver problems.
Mitochondrial diseases can appear at any time in life, however the sooner the mutation manifests, the more severe the symptoms and the greater the degree of lethality.
How the diagnosis is made
The diagnosis is difficult, since the symptoms of the disease may suggest other conditions. The mitochondrial diagnosis is usually only made when the results of the tests commonly requested are inconclusive.
The identification of mitochondrial disease is most often done by doctors specializing in mitochondrial diseases through genetic and molecular tests.
Treatment for Mitochondrial Disease
Treatment for mitochondrial disease aims to promote the person's well-being and slow the progression of the disease, and the use of vitamins, hydration and a balanced diet may be recommended by the doctor. In addition, it is advised against the practice of very intense physical activities so that there is no energy deficiency to maintain essential body activities. Thus, it is important that the person conserve their 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 nucleus of the egg cell, which corresponds to the fertilized egg with the sperm, with healthy mitochondria from another woman, called a mitochondria donor.
In this way, the embryo would have the genetic material of the parents and mitochondrial of another person, being popularly called "baby of three parents". Despite being effective in terms of interrupting heredity, this technique still needs to be regularized and accepted by ethics committees.
