Vestnik dermatologii i venerologiiVestnik dermatologii i venerologiiВестник дерматологии и венерологии0042-46092313-6294Rossijskoe Obschestvo Dermatovenerologov i Kosmetologov1691610.25208/vdv16916ydlayvREVIEWSОБЗОР ЛИТЕРАТУРЫReview ArticleExperimental modeling of congenital epidermolysis bullosa — a tool for studying the pathogenesis and gene therapy targets of the diseaseЭкспериментальное моделирование врожденного буллезного эпидермолиза — инструмент изучения патогенеза и мишеней генной терапии заболеванияhttps://orcid.org/0000-0003-3805-84893604-6491KaramovaArfenya E.КарамоваАрфеня Эдуардовна
Russian Federation

MD, Cand. Sci. (Med.), Assistant Professor

к.м.н., доцент

karamova@cnikvi.ruhttps://orcid.org/0000-0001-7723-87019506-0978GirkoEkaterina V.ГирькоЕкатерина Витальевна
Russian Federation

Junior Research Associate

младший научный сотрудник

katrin_45_34@mail.ruhttps://orcid.org/0000-0002-2924-30368310-7019AulovaKseniya M.АуловаКсения Максимовна
Russian Federation

Junior Research Associate

младший научный сотрудник

aulovaksenia@mail.ruhttps://orcid.org/0000-0003-4169-41287634-5521PlahovaXenia I.ПлаховаКсения Ильинична
Russian Federation

MD, Dr. Sci. (Med.), Assistant Professor

д.м.н., доцент

plahova_xenia@mail.ruState Research Center of Dermatovenereology and CosmetologyГосударственный научный центр дерматовенерологии и косметологии2108202530092025101427391906202506082025Copyright ©; 2025, Karamova A.E., Girko E.V., Aulova K.M., Plahova X.I.Copyright ©; 2025, Карамова А.Э., Гирько Е.В., Аулова К.М., Плахова К.И.2025Karamova A.E., Girko E.V., Aulova K.M., Plahova X.I.Карамова А.Э., Гирько Е.В., Аулова К.М., Плахова К.И.https://creativecommons.org/licenses/by-nc/4.0https://vestnikdv.ru/jour/article/view/16916

Epidermolysis bullosa (EB) is a phenotypically and genetically heterogeneous group of hereditary dermatoses characterized by the formation of blisters on the skin and/or mucous membranes with minimal mechanical exposure. The study of the pathogenesis and development of therapeutic strategies for EB present significant challenges. In this regard, experimental animal models of EB, especially using laboratory mice, are important in modern science. Genetically modified lines reproducing key mutations in the corresponding genes (Krt5, Krt14, Plec, Lama3, Lamb3, Lamc2, Col7a1, etc.) successfully mimic phenotypic manifestations characteristic of human forms of EB and allow us to study the stages of the pathological process development, as well as to study the molecular basis of the disease and initiate the development of new effective methods of treatment. The advent of genome editing using CRISPR-Cas9, which allows targeted mutations in genes of interest, has simplified the disease modeling process. Further improvement of models is necessary for effective translation of experimental data into clinical practice.

Врожденный буллезный эпидермолиз (ВБЭ) — это фенотипически и генетически гетерогенная группа наследственных дерматозов, характеризующаяся образованием пузырей на коже и/ или слизистых оболочках при минимальном механическом воздействии. Изучение патогенеза и разработка терапевтических стратегий при ВБЭ сопряжены с существенными трудностями, которые обусловлены орфанным характером заболевания и этическими ограничениями, накладываемыми на проведение исследований с участием пациентов. В связи с этим экспериментальные модели ВБЭ на животных, особенно с использованием лабораторных мышей, приобретают ключевое значение в современной науке. Генетически модифицированные линии, воспроизводящие ключевые мутации в соответствующих генах (Krt5, Krt14, Plec, Lama3, Lamb3, Lamc2, Col7a1 и др.), успешно имитируют фенотипические проявления, характерные для человеческих форм ВБЭ, и позволяют исследовать этапы развития патологического процесса, а также изучать молекулярные основы заболевания и инициировать разработку новых эффективных методов лечения. Появление редактирования генома с помощью CRISPR- Cas9, дающее возможность вносить целевые мутации в интересующие гены, упростило процесс моделирования заболевания. Дальнейшее совершенствование моделей необходимо для эффективной трансляции экспериментальных данных в клиническую практику.

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