A new treatment for rare and severe genetic skin disease has been released
Oct 27, 2024
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Patients are unable to form type 7 collagen present in their skin due to genetic defects, which easily damages their skin and mucous membranes and live with chronic skin injuries. In addition, they suffer from secondary infections and pain repeatedly due to unhealing skin injuries, and live in fear of developing skin cancer.
Among patients with congenital genetic diseases, a phenomenon in which some skin cells with genetic mutations return to normal genotypes sometimes occurs naturally. This natural restoration phenomenon is called 'revertant mosaicism'.
It is known to occur infrequently in some patients with hereditary skin diseases, such as juvenile or blistering epidermal detachment. When a patient with blistering epidermal separation develops a reversible capability, the area is observed like a small island with a normal appearance where the protein that was lacking in the basal rod connecting the epidermis to the dermis is restored and blisters and wounds do not occur even when the skin is rubbed.
A research team consisting of Professor Lee Sang-eun of the Department of Dermatology at Yonsei University Gangnam Severance Hospital and Professor Bae Sang-soo of the Biochemistry Class at Seoul National University School of Medicine recently published a case report on successful treatment of chronic ulcers through autologous skin transplantation for RDEB patients with 'Liverant Maternity' in the prestigious dermatology journal 'JAMA Dermatology" (IF=11.5) published by the American Medical Association.
The research team found palm-sized normal skin that does not develop blisters on the arm of a 30-year-old female severe RDEB patient and confirmed that genetic defects were naturally corrected through RNA analysis through nanopore sequencing in cells in that area.
The research team collected about 40 to 50 2mm-sized tissues from the skin of the arm where the mutant natural restoration occurred, and then transplanted eight times into chronic ulcers (about 20 X 14 cm), which were the most serious in the patient's body.
Between 2 and 6 weeks of treatment, the transplanted tissue was regenerated rapidly and the regeneration process occurred to the surrounding skin, and it was observed that the re-epithelialized area exceeded up to 360% compared to the transplant site. The transplant site was maintained without recurrence for 15 months, and the patient experienced reduced pain and improved quality of life.
Professor Lee Sang-eun, who led the study, said "This study is an important achievement that presents new possibilities for the treatment of RDEB patients. The results demonstrate that cells with mutant spontaneous restoration have strong potential as a self-medicating platform."
Professor Bae Sang-soo emphasized that `This study provides important clues to the development of treatments through genetic correction in the future.'
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