A cure for genetic diseases has been found

To restore the functions of damaged immune and nerve cells, scientists previously used the principle of the viral-cellular "matryoshka". The method was based on introducing a gene directly into the virus, and the virus itself into blood stem cells, 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 appearance of which is caused by genetic failures of a congenital or acquired nature. Molecular biology studies the work of genes, which has allowed the idea of gene therapy to be established as a possibility of curing serious diseases.

The idea is based on the need to replace a gene with impaired functions with its "healthy" copy. Viruses, known for their ability to easily penetrate cells, allow this action to be performed. According to the researchers, it is enough to supply the virus with the necessary gene, and neutralize the pathogenic factor in the virus itself and launch it to the affected cells.

The difficulties that scientists encountered during the research process are related to the complexity of delivering the carrier virus to the “precise address”, since the cells have strong protection against any hostile penetration. Even after the virus with the gene enters the desired cell, it is necessary to maintain the gene activity so that it can cope with the local genetic defect. Another problem is the reconfiguration of the immune system to perceive the gene copy as safe and vital.

The San Raffaele Institute in Milan, Italy, as reported by the journal Science, has overcome all the challenges. Two articles describe the successes in treating patients suffering from genetic diseases – metachromatic leukodystrophy and Wiskott-Aldrich syndrome.

Leukodystrophy is a rare pathology caused by a mutation in the ARSA gene. The gene is responsible for the performance of lysosomes, which perform a cleansing function in the body. Changes at the ARSA level also occur as a result of the accumulation and subsequent death of harmful substances in cells. Most often, such processes occur in the brain and spinal cord, so the symptoms are more manifested by mental, neuromuscular, sensory anomalies. The most severe situations lead to the death of the patient a couple of years after the detection of the first painful signs.

Introducing a healthy gene into the nervous system is a rather difficult task, which scientists were able to solve with the help of the patient's own hematopoietic stem cells. These cells are located in bone marrow structures or in the bloodstream. As a result of the efforts of the Milan medical team, the lentivirus with the healthy ARSA gene introduced into the stem cells was able to reach the nervous system.

The scientists managed to maintain the activity of the ARSA gene by supplying hematopoietic cells with several components of the virus. At the same time, the patients did not have any side effects on their own blood stem cells: no immune reactions, no changes in pressure. The protein content in the cerebrospinal fluid under the influence of the ARSA gene normalized over the course of a year in all subjects.

Wiskott-Aldrich syndrome, associated with gene dysfunction and decreased body defenses, was cured using the same genetic therapy method.

The authors of the works draw attention to the fact that so far only one gene has been defeated. Diseases involving damage to several genes are waiting in the wings. But it is already possible to say with confidence that the use of patient stem cells is a breakthrough in the treatment of genetic pathologies.

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