中华皮肤科杂志 ›› 2023, Vol. 56 ›› Issue (7): 698-702.doi: 10.35541/cjd.20201116
李越 吴金燕 袁若月 杨屈杨 赵贤省 朱宁文
收稿日期:
2020-11-20
修回日期:
2021-05-31
发布日期:
2023-07-04
通讯作者:
朱宁文
E-mail:drnwzhu@126.com
基金资助:
Li Yue, Wu Jinyan, Yuan Ruoyue, Yang Quyang, Zhao Xiansheng, Zhu Ningwen
Received:
2020-11-20
Revised:
2021-05-31
Published:
2023-07-04
Contact:
Zhu Ningwen
E-mail:drnwzhu@126.com
Supported by:
摘要: 【摘要】 遗传性大疱性表皮松解症(EB)是一种罕见的残毁型、致死型单基因遗传性皮肤病,对社会和家庭造成了沉重负担。细胞疗法因其卓越稳定的临床疗效成为EB治疗中极有前景的一种手段,本文从干细胞和体细胞两方面总结近年来细胞疗法在EB的实验室研究及临床应用方面的进展。
李越 吴金燕 袁若月 杨屈杨 赵贤省 朱宁文. 细胞治疗遗传性大疱性表皮松解症研究进展[J]. 中华皮肤科杂志, 2023,56(7):698-702. doi:10.35541/cjd.20201116
Li Yue, Wu Jinyan, Yuan Ruoyue, Yang Quyang, Zhao Xiansheng, Zhu Ningwen. Cell therapy for hereditary epidermolysis bullosa[J]. Chinese Journal of Dermatology, 2023, 56(7): 698-702.doi:10.35541/cjd.20201116
[1] | Has C, Bauer JW, Bodemer C, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility[J]. Br J Dermatol, 2020,183(4):614⁃627. doi: 10.1111/bjd.18921. |
[2] | Kocher T, Koller U. Advances in gene editing strategies for epidermolysis bullosa[J]. Prog Mol Biol Transl Sci, 2021,182:81⁃109. doi: 10.1016/bs.pmbts.2020.12.007. |
[3] | Bonafont J, Mencía Á, García M, et al. Clinically relevant correction of recessive dystrophic epidermolysis bullosa by Dual sgRNA CRISPR/Cas9⁃mediated gene editing[J]. Mol Ther, 2019,27(5):986⁃998. doi: 10.1016/j.ymthe.2019.03.007. |
[4] | Hainzl S, Peking P, Kocher T, et al. COL7A1 editing via CRISPR/Cas9 in recessive dystrophic epidermolysis bullosa[J]. Mol Ther, 2017,25(11):2573⁃2584. doi: 10.1016/j.ymthe.2017.07.005. |
[5] | Izmiryan A, Ganier C, Bovolenta M, et al. Ex vivo COL7A1 correction for recessive dystrophic epidermolysis bullosa using CRISPR/Cas9 and homology⁃directed repair[J]. Mol Ther Nucleic Acids, 2018,12:554⁃567. doi: 10.1016/j.omtn.2018.06. 008. |
[6] | Jacków J, Guo Z, Hansen C, et al. CRISPR/Cas9⁃based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells[J]. Proc Natl Acad Sci U S A, 2019,116(52):26846⁃26852. doi: 10.1073/pnas.190708 1116. |
[7] | Takashima S, Shinkuma S, Fujita Y, et al. Efficient gene reframing therapy for recessive dystrophic epidermolysis bullosa with CRISPR/Cas9[J]. J Invest Dermatol, 2019,139(8):1711⁃1721.e4. doi: 10.1016/j.jid.2019.02.015. |
[8] | Eichstadt S, Barriga M, Ponakala A, et al. Phase 1/2a clinical trial of gene⁃corrected autologous cell therapy for recessive dystrophic epidermolysis bullosa[J]. JCI Insight, 2019,4(19):e130554. doi: 10.1172/jci.insight.130554. |
[9] | Siprashvili Z, Nguyen NT, Gorell ES, et al. Safety and wound outcomes following genetically corrected autologous epidermal grafts in patients with recessive dystrophic epidermolysis bullosa[J]. JAMA, 2016,316(17):1808⁃1817. doi: 10.1001/jama.2016. 15588. |
[10] | Gaucher S, Lwin SM, Titeux M, et al. EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa[J]. Br J Dermatol, 2020,182(3):794⁃797. doi: 10.1111/bjd.18559. |
[11] | Bauer JW, Koller J, Murauer EM, et al. Closure of a large chronic wound through transplantation of gene⁃corrected epidermal stem cells[J]. J Invest Dermatol, 2017,137(3):778⁃781. doi: 10.1016/j.jid.2016.10.038. |
[12] | Prodinger C, Reichelt J, Bauer JW, et al. Epidermolysis bullosa: advances in research and treatment[J]. Exp Dermatol, 2019,28(10):1176⁃1189. doi: 10.1111/exd.13979. |
[13] | Lwin SM, Syed F, Di WL, et al. Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa[J]. JCI Insight, 2019,4(11):e126243. doi: 10.1172/jci.insight.126243. |
[14] | Twaroski K, Eide C, Riddle MJ, et al. Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa[J]. Br J Dermatol, 2019,181(6):1247⁃1253. doi: 10.1111/bjd.17943. |
[15] | Kowalewski C, Bremer J, Gostynski A, et al. Amelioration of junctional epidermolysis bullosa due to exon skipping[J]. Br J Dermatol, 2016,174(6):1375⁃1379. doi: 10.1111/bjd.14374. |
[16] | Bremer J, van der Heijden EH, Eichhorn DS, et al. Natural exon skipping sets the stage for exon skipping as therapy for dystrophic epidermolysis bullosa[J]. Mol Ther Nucleic Acids, 2019,18:465⁃475. doi: 10.1016/j.omtn.2019.09.009. |
[17] | Turczynski S, Titeux M, Tonasso L, et al. Targeted exon skipping restores type VII collagen expression and anchoring fibril formation in an in vivo RDEB model[J]. J Invest Dermatol, 2016,136(12):2387⁃2395. doi: 10.1016/j.jid.2016.07.029. |
[18] | Bremer J, Bornert O, Nyström A, et al. Antisense oligonucleotide⁃mediated exon skipping as a systemic therapeutic approach for recessive dystrophic epidermolysis bullosa[J]. Mol Ther Nucleic Acids, 2016,5(10):e379. doi: 10.1038/mtna.2016.87. |
[19] | Bornert O, Kühl T, Bremer J, et al. Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy[J]. Mol Ther, 2016,24(7):1302⁃1311. doi: 10.1038/mt.2016.92. |
[20] | South AP, Uitto J. Type VII Collagen Replacement therapy in recessive dystrophic epidermolysis bullosa⁃how much, how often?[J]. J Invest Dermatol, 2016,136(6):1079⁃1081. doi: 10.1016/j.jid.2016.03.005. |
[21] | Lincoln V, Cogan J, Hou Y, et al. Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa[J]. Proc Natl Acad Sci U S A, 2018,115(28):E6536⁃E6545. doi: 10.1073/pnas.18031 54115. |
[22] | Woodley DT, Cogan J, Hou Y, et al. Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients[J]. J Clin Invest, 2017,127(8):3028⁃3038. doi: 10.1172/JCI92707. |
[23] | Atanasova VS, Jiang Q, Prisco M, et al. Amlexanox enhances premature termination codon read⁃through in COL7A1 and expression of full length type VII collagen: potential therapy for recessive dystrophic epidermolysis bullosa[J]. J Invest Dermatol, 2017,137(9):1842⁃1849. doi: 10.1016/j.jid.2017.05.011. |
[24] | Kwong A, Cogan J, Hou Y, et al. Gentamicin induces laminin 332 and improves wound healing in junctional epidermolysis bullosa patients with nonsense mutations[J]. Mol Ther, 2020,28(5):1327⁃1338. doi: 10.1016/j.ymthe.2020.03.006. |
[25] | Atanasova VS, Russell RJ, Webster TG, et al. Thrombospondin⁃1 is a major activator of TGF⁃β signaling in recessive dystrophic epidermolysis bullosa fibroblasts[J]. J Invest Dermatol, 2019,139(7):1497⁃1505.e5. doi: 10.1016/j.jid.2019.01.011. |
[26] | Schierling B, Dannemann N, Gabsalilow L, et al. A novel zinc⁃finger nuclease platform with a sequence⁃specific cleavage module[J]. Nucleic Acids Res, 2012,40(6):2623⁃2638. doi: 10.1093/nar/gkr1112. |
[27] | Chamorro C, Mencía A, Almarza D, et al. Gene editing for the efficient correction of a recurrent COL7A1 mutation in recessive dystrophic epidermolysis bullosa keratinocytes[J]. Mol Ther Nucleic Acids, 2016,5(4):e307. doi: 10.1038/mtna.2016.19. |
[28] | Supp DM, Hahn JM, Combs KA, et al. Collagen VII expression is required in both keratinocytes and fibroblasts for anchoring fibril formation in bilayer engineered skin substitutes[J]. Cell Transplant, 2019,28(9⁃10):1242⁃1256. doi: 10.1177/0963689 719857657. |
[29] | Lim YH, Fisher JM, Choate KA. Revertant mosaicism in genodermatoses[J]. Cell Mol Life Sci, 2017,74(12):2229⁃2238. doi: 10.1007/s00018⁃017⁃2468⁃2. |
[30] | Gostynski A, Deviaene FC, Pasmooij AM, et al. Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy[J]. Br J Dermatol, 2009,161(2):444⁃447. doi: 10.1111/j.1365⁃2133.2009.09118.x. |
[31] | Gostyński A, Pasmooij AM, Jonkman MF. Successful therapeutic transplantation of revertant skin in epidermolysis bullosa[J]. J Am Acad Dermatol, 2014,70(1):98⁃101. doi: 10.1016/j.jaad. 2013.08.052. |
[32] | Mavilio F, Pellegrini G, Ferrari S, et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells[J]. Nat Med, 2006,12(12):1397⁃1402. doi: 10.1038/nm1504. |
[33] | De Rosa L, Carulli S, Cocchiarella F, et al. Long⁃term stability and safety of transgenic cultured epidermal stem cells in gene therapy of junctional epidermolysis bullosa[J]. Stem Cell Reports, 2013,2(1):1⁃8. doi: 10.1016/j.stemcr.2013.11.001. |
[34] | Hirsch T, Rothoeft T, Teig N, et al. Regeneration of the entire human epidermis using transgenic stem cells[J]. Nature, 2017,551(7680):327⁃332. doi: 10.1038/nature24487. |
[35] | De Rosa L, Secone Seconetti A, De Santis G, et al. Laminin 332⁃dependent YAP dysregulation depletes epidermal stem cells in junctional epidermolysis bullosa[J]. Cell Rep, 2019,27(7):2036⁃2049.e6. doi: 10.1016/j.celrep.2019.04.055. |
[36] | Wu W, Lu Z, Li F, et al. Efficient in vivo gene editing using ribonucleoproteins in skin stem cells of recessive dystrophic epidermolysis bullosa mouse model[J]. Proc Natl Acad Sci U S A, 2017,114(7):1660⁃1665. doi: 10.1073/pnas.1614775114. |
[37] | Itoh M, Kawagoe S, Tamai K, et al. Footprint⁃free gene mutation correction in induced pluripotent stem cell (iPSC) derived from recessive dystrophic epidermolysis bullosa (RDEB) using the CRISPR/Cas9 and piggyBac transposon system[J]. J Dermatol Sci, 2020,98(3):163⁃172. doi: 10.1016/j.jdermsci.2020.04.004. |
[38] | Wagner JE, Ishida⁃Yamamoto A, McGrath JA, et al. Bone marrow transplantation for recessive dystrophic epidermolysis bullosa[J]. N Engl J Med, 2010,363:629⁃39. doi: 10.1056/NEJMoa0910501. |
[39] | Tolar J, Wagner JE. Allogeneic blood and bone marrow cells for the treatment of severe epidermolysis bullosa: repair of the extracellular matrix[J]. Lancet, 2013,382(9899):1214⁃1223. doi: 10.1016/S0140⁃6736(13)61897⁃8. |
[40] | Ebens CL, McGrath JA, Tamai K, et al. Bone marrow transplant with post⁃transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts[J]. Br J Dermatol, 2019,181(6):1238⁃1246. doi: 10.1111/bjd.17858. |
[41] | Petrof G, Lwin SM, Martinez⁃Queipo M, et al. Potential of systemic allogeneic mesenchymal stromal cell therapy for children with recessive dystrophic epidermolysis bullosa[J]. J Invest Dermatol, 2015,135(9):2319⁃2321. doi: 10.1038/jid.2015. 158. |
[42] | Rashidghamat E, Kadiyirire T, Ayis S, et al. Phase I/II open⁃label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa[J]. J Am Acad Dermatol, 2020,83(2):447⁃454. doi: 10.1016/j.jaad.2019.11.038. |
[43] | Ebens CL, McGrath JA, Riedl JA, et al. Immune tolerance of allogeneic hematopoietic cell transplantation supports donor epidermal grafting of recessive dystrophic epidermolysis bullosa chronic wounds[J]. Br J Dermatol, 2021,184(6):1161⁃1169. doi: 10.1111/bjd.19503. |
[44] | Fujita Y, Komatsu M, Lee SE, et al. Intravenous injection of muse cells as a potential therapeutic approach for epidermolysis bullosa[J]. J Invest Dermatol, 2021,141(1):198⁃202.e6. doi: 10. 1016/j.jid.2020.05.092. |
[45] | Woodley DT, Cogan J, Wang X, et al. De novo anti⁃type VII collagen antibodies in patients with recessive dystrophic epidermolysis bullosa[J]. J Invest Dermatol, 2014,134(4):1138⁃1140. doi: 10.1038/jid.2013.475. |
[1] | 王莉 任增果 娄桂予 张玉薇 杨科 雷星星 张冰 廖世秀 郝冰涛. 两个营养不良型大疱性表皮松解症家系的基因诊断[J]. 中华皮肤科杂志, 2023, 0(3): 20220061-e20220061. |
[2] | 王俊霞 郭伟楠 陈慧 郝军峰 李冰 卫静宜 赵涛. 自体脂肪移植治疗40例稳定期线状硬斑病疗效回顾分析[J]. 中华皮肤科杂志, 2023, 0(3): 20210866-e20210866. |
[3] | 郭伟楠 王俊霞 陈慧 郝军峰 李冰 卫静宜 赵涛. 自体脂肪干细胞胶填充治疗凹陷性痤疮瘢痕疗效观察[J]. 中华皮肤科杂志, 2023, 0(3): 20210867-e20210867. |
[4] | 王琪 坚哲. 间充质干细胞三维培养技术及其在皮肤病治疗中的应用进展[J]. 中华皮肤科杂志, 2023, 0(2): 20230083-e20230083. |
[5] | 丁雨欣 吕中法. 干细胞治疗斑秃的研究进展[J]. 中华皮肤科杂志, 2022, 55(9): 835-838. |
[6] | 鲍迎秋 张艳君 李博 宫静 傅裕 徐哲. 隐性遗传性营养不良型大疱性表皮松解症的基因治疗进展[J]. 中华皮肤科杂志, 2022, 55(8): 739-743. |
[7] | 杨舟 徐哲 王珊 徐教生 韩晓锋 马琳. 隐性营养不良型大疱性表皮松解症4例COL7A1基因突变分析[J]. 中华皮肤科杂志, 2022, 55(8): 653-658. |
[8] | 陈付英 杨伟琴 张蓓蓓 王雨蒙 王建波 姚志荣 李明, . 罕见亚型大疱性表皮松解症3例及家系调查[J]. 中华皮肤科杂志, 2022, 55(8): 682-685. |
[9] | 晋亮 刘玲. 部分遗传性皮肤病的治疗进展[J]. 中华皮肤科杂志, 2022, 55(8): 735-739. |
[10] | 张书常 葛医宬 赵智浩 郭盼 邢卫斌 胡立志. 转录辅激活因子Mediator 1调控小鼠皮肤毛发再生的作用机制研究[J]. 中华皮肤科杂志, 2022, 55(5): 401-407. |
[11] | 夏娜 高超 刘璇 邹东旭 姬广聚 蔡宏. 脐带间充质干细胞外泌体对急性皮肤创面愈合的初步研究[J]. 中华皮肤科杂志, 2022, 55(5): 382-388. |
[12] | 于聪, 周城, 张建中. 硬皮病样皮肤移植物抗宿主病24例临床特征分析[J]. 中华皮肤科杂志, 2022, 55(2): 123-128. |
[13] | 王冠钰 王艺萌 李薇薇 张春雷. 复发/难治性皮肤T细胞淋巴瘤的非化疗药物新选择[J]. 中华皮肤科杂志, 2022, 0(1): 20210850-e20210850. |
[14] | 王晓宇 王文慧 戴慧 谢嘉伟 王冠钰 郭金竹 张华 王秀娟 徐永胜 张春雷. 人脐带间充质干细胞对咪喹莫特诱导的银屑病样皮炎小鼠模型的治疗作用[J]. 中华皮肤科杂志, 2021, 54(6): 485-492. |
[15] | 王小坡 陈志明 杨勇 孙建方. KRT5基因新生突变致重度型单纯型大疱性表皮松解症一家系[J]. 中华皮肤科杂志, 2021, 54(3): 229-231. |
|