Caught on like a native

Transgenic skin retained its normal properties five years after the transplant

Anastasia Kuznetsova-Fantoni, N+1

Italian and German doctors summed up the five-year results of transgenic skin transplantation to a boy with epidermolysis bullosa. The skin has taken root well and continues to retain its original properties, and there were no side effects from the operation. An article about the child's health was published in The New England Journal of Medicine (Kueckelhaus et al., Transgenic Epidermal Cultures for Junctional Epidermolysis Bullosa — 5-Year Outcomes).

Transgenic skin section, arrows show vessels feeding the epidermis. Drawings from the article by Kueckelhaus et al.

Epidermolysis bullosa is a genetic disease in which blisters and erosions form on the body. The disease is the result of mutations of more than 10 genes that encode proteins located in various layers of the skin. Because of this, the connection between the layers is broken, and the skin becomes very sensitive to any even slight impact. Patients cannot lead a normal lifestyle, as touching the skin is dangerous. Treatment of this pathology remained symptomatic for a long time, but in 2017 Italian and German scientists were able to make progress in the treatment of epidermolysis bullosa.

Doctors led by Michele De Luca from The University of Modena and Reggio Emilia transplanted transgenic skin to a seven-year-old boy with epidermolysis bullosa. Scientists grew it from the child's own epidermis cells, which were treated with retroviral vectors carrying a healthy copy of the LAMB3 gene (it was he who was defective in the patient). Epidermal cell cultures were grown in the form of large layers, which were then carefully placed on open areas of the dermis. Stitching was not required at the same time — the layers took root on their own. The transplantation took place in three stages, and the entire treatment took eight months. After the operation, the boy was able to play sports and lead the same life as his peers.

Now doctors have published a report on the child's condition five years after the transplant. The boy's skin remains strong, and when traumatized heals on its own, without forming bubbles. The skin was not transplanted on the patient's chest, so when doctors temporarily stopped monitoring it due to the coronavirus pandemic, the boy had ulcers in this place again. In those places where the skin was transplanted, ulcers did not occur during this period.

Under the letter C is transgenic skin, and under the letter D is an area of non-transplanted skin.

During the observation, the boy's skin managed to be renewed 30-60 times, while its properties remain unchanged. This is due to the fact that genetic modifications were also introduced into stem cells at the primary stages of differentiation. Sweat and sebaceous glands also formed in the boy's skin, and by the fifth year after the operation, she had gained full sensitivity to cold and heat. Only the boy's sensitivity to touch remained below normal.

Also, the doctors did not find any side effects of the treatment of cells with retroviral vectors in the child — uncontrolled reproduction or the formation of tumors. The doctors concluded that the transgenic skin has taken root well and maintains the desired properties for a long time.

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