A method of treating genetic diseases is found

To restore the functions of the affected immune and nerve cells, earlier scientists used the principle of a viral-cell "nesting doll". The technique was based on the introduction of the gene directly into the virus, and the virus itself into the stem cells of the blood, thanks to which the therapeutic component was delivered to the necessary place.

Modern medicine has a wide range of diseases, often quite severe and difficult to cure, the occurrence of which is due to genetic malfunctions of an innate or acquired character. The study of the work of genes is carried out by molecular biology, which allowed us to affirm the idea of gene therapy as an opportunity to heal serious illnesses.

The idea is based on the need to replace the gene with impaired functions by its "healthy" copy. To perform this action allows viruses known for their ability to easily penetrate into cells. According to the researchers, it is enough to supply the virus with the necessary gene, and the virus itself should neutralize the pathogenic factor and start it to the affected cells.

The difficulties faced by scientists in the research process are related to the complexity of delivering the carrier virus to the "exact address", since cells have strong protection against any hostile penetration. Even after getting the virus with the gene into the desired cell, it is necessary to preserve the activity of the gene so that it can cope with the local genetic defect. Another problem is the adjustment of the immune system to perceive the copy of the gene as safe and vital.

The Scientific Institute of San Rafael (Milan, Italy), according to the magazine "Science", coped with all the complex problems. Two articles describe the progress in the treatment of patients suffering from genetic diseases - metachromatic leukodystrophy and Wiskott-Aldrich syndrome.

Disease leukodystrophy is a rare pathology caused by a mutation in the ARSA gene. The gene is responsible for the operability of lysosomes, which perform a purifying function in the body. Changes at the level of ARSA also occur as a result of accumulation and subsequent death in cells of harmful substances. Most often, these processes occur in the brain and spinal cord, so the symptomatology is more manifested by mental, neuromuscular, sensory anomalies. The most difficult situations lead to the patient's death a couple of years after the discovery of the first painful symptoms.

To introduce a healthy gene into the nervous system is a rather difficult task, which the scientists have been helped to solve by the hematopoietic stem cells of the patient. These cells are located in the structures of the bone marrow or in the bloodstream. As a result of the efforts of the medical team from Milan, lentivirus with an embedded healthy ARSA gene in the stem cells could reach the nervous system.

Preservation of the activity of the ARSA gene was achieved by supplying hematopoietic cells with several components of the virus. At the same time, patients did not have any side effects on their own blood stem cells: neither immune reactions, nor pressure changes. The protein content in the cerebrospinal fluid under the influence of the ARSA gene normalized throughout the year in all subjects.

To get rid of the Wiskott-Aldrich syndrome, associated with the dysfunction of the gene and lowering the body's defenses, was the same genetic and therapeutic method.

The authors of the works draw attention to the fact that so far only one gene has been violated. Diseases involving the defeat of several genes are waiting for their time. But already now it is possible to say with certainty that the use of patient's stem cells is a breakthrough in the treatment of genetic pathologies.

[1], [2], [3], [4]