Ryumina I I, Goryunov K V, Silachev D N, Shevtsova Yu A, Babenko V A, Marycheva N M, Kotalevskaya Yu Yu, Zubkov V V, Zubkov G T
V. I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russian Federation, Moscow, Russia.
A. N. Belozersky Research Institute of Physico-Chemical Biology, M. V. Lomonosov Moscow State University, Moscow, Russia.
Bull Exp Biol Med. 2021 May;171(1):109-121. doi: 10.1007/s10517-021-05182-8. Epub 2021 May 29.
Epidermolysis bullosa is a severe hereditary disease caused by mutations in genes encoding cutaneous basement membrane proteins. These mutations lead to dermal-epidermal junction failure and, as a result, to disturbances in the morphological integrity of the skin. Clinically, it manifests in the formation of blisters on the skin or mucosa that in some cases can turn into non-healing chronic wounds, which not only impairs patient's quality of life, but also is a live-threatening condition. Now, the main approaches in the treatment of epidermolysis bullosa are symptomatic therapy and palliative care, though they are little effective and are aimed at reducing the pain, but not to complete recovery. In light of this, the development of new treatment approaches aimed at correction of genetic defects is in progress. Various methods based on genetic engineering technologies, transplantation of autologous skin cells, progenitor skin cells, as well as hematopoietic and mesenchymal stem cells are studied. This review analyzes the pathogenetic methods developed for epidermolysis bullosa treatment based on the latest achievements of molecular genetics and cellular technologies, and discusses the prospects for the use of these technologies for the therapy of epidermolysis bullosa.
大疱性表皮松解症是一种由编码皮肤基底膜蛋白的基因突变引起的严重遗传性疾病。这些突变导致真皮 - 表皮连接功能障碍，进而导致皮肤形态完整性受到干扰。临床上，它表现为皮肤或黏膜上形成水疱，在某些情况下可发展为不愈合的慢性伤口，这不仅损害患者的生活质量，而且是一种危及生命的状况。目前，大疱性表皮松解症的主要治疗方法是对症治疗和姑息治疗，尽管这些方法效果甚微，旨在减轻疼痛而非实现完全康复。鉴于此，旨在纠正基因缺陷的新治疗方法正在研发中。基于基因工程技术、自体皮肤细胞、祖代皮肤细胞以及造血和间充质干细胞移植的各种方法正在研究中。本综述分析了基于分子遗传学和细胞技术的最新成果为大疱性表皮松解症治疗所开发的致病方法，并讨论了这些技术用于大疱性表皮松解症治疗的前景。
