This cryptic mirror disease

The vast majority of people, speaking of the heart, put their hand to the left side of the chest. However, in 1643 the Italian surgeon Marco Severino described the first case of the location of the heart on the right in the history of mankind, and after another 50 years the first case of a complete transposition of internal organs, better known as a mirror disease, was described. With this disease, the location of the internal organs is a mirror image of the normal. So, the heart is located on the right, the tip of it is also facing to the right, the stomach is on the right, but the gallbladder and liver, on the contrary, are on the left. The intestine, the blood and lymph vessels, the nerves are also arranged in a mirror image. Affects the mirror syndrome and, it would seem, symmetrical lungs: the right has 2 lobes, and the left - 3.

Naturally, having become interested in this anatomical anomaly, people began to search for its reasons. In the Middle Ages, the mirror illness was ascribed equally to the devil's machinations, and to the gifts of God. And only later, scientists found an explanation for this mysterious phenomenon and linked it with primary ciliary dyskinesia and the Kartagener syndrome. In general, the mirror syndrome is a genetically determined disease associated with a disruption in the activity of the ciliary epithelium due to the inherent defect in their morphology. With this pathology, a mutation occurs in 12 different genes that code for the synthesis of proteins necessary for the construction and correct function of cilia. Because of this, patients have respiratory disorders, since mucus from the respiratory tract is difficult to escape, and infertility is also often encountered in men (less often in women).

In the process of embryonic development of the fetus, it is the movement of the cilia that determines the axis relative to which the organ is laid, and therefore, in the event of a violation of the function of the cilia, transitions occur. Like most other genetic pathologies, a mirror disease is characterized by an autosomal recessive type of inheritance, and therefore its frequency is extremely low: from 1 case per 10,000 people to 1 case per 60,000.

Sometimes, in especially difficult situations, there is an incomplete transposition of internal organs: they are all mirrored, and the heart is still on the left. In 95% of cases of such morphology, patients suffer from various congenital heart defects. As for other cases of mirror syndrome, it does not have practically no scientifically proven effect on health, quality and life expectancy. There is only some discomfort from the fact that a person, as a rule, does not suspect such a feature, and therefore, if there are problems with health, physicians have significant at first glance difficulties with diagnosing diseases.

However, the current level of development of medicine allowed doctors not only to diagnose transposition of organs in humans, but also to do genetic analysis to identify mutations in target genes. The main problem that people with a diagnosis of "mirror disease" can face is organ transplantation. In connection with the rarity of the disease, it is quite difficult to find a potential donor, and often it is not possible at all.

It is worth noting and the fact that the transposition of organs is found not only in humans, but also among representatives of the animal kingdom, for example, snails. So, the grape snail, as a rule, has a bowl spun to the right, but with a frequency of 1 to 10,000 - 1 to 100,000 there are individuals that have a shell twisted to the left.

In addition, the mirror disease is an excellent soil for the development of superstition. Despite the fact that the Middle Ages have long sunk into oblivion, many people still believe that patients with transposition of organs have supernatural abilities, and official science, in turn, continues to enthusiastically study the factors causing such a specific mutation of the genome.