美国雪松西奈医疗中心Kate Lawrenson团队近期取得了重要工作进展，他们研究分析了子宫内膜异位症的单细胞转录组。相关论文2023年1月9日在线发表于《自然—遗传学》杂志上。
据了解，子宫内膜异位症是女性常见的疾病，可导致慢性疼痛和不孕，并与卵巢癌的风险升高相关。
研究人员分析了来自子宫内膜瘤（n=8），子宫内膜异位症（n=28），正位子宫内膜（n=10） ，未受影响的卵巢（n=4）和无子宫内膜异位症腹膜（n=4）的超过370000个细胞的转录组，生成了跨组织部位的子宫内膜型上皮细胞、基质细胞和微环境细胞群的细胞图谱。不同组织类型的子宫内膜型上皮和间质的细胞和分子特征不同，提示细胞重组和转录重编程疾病中的作用。子宫内膜瘤的上皮细胞、间质细胞和近端间皮细胞均表现出促炎途径的失调和补体蛋白的上调。上皮细胞中的体细胞ARID1A突变与促血管生成因子和促淋巴血管生成因子的上调以及内皮细胞室的重塑相关，并伴有淋巴内皮细胞的富集。
最后，纤毛上皮细胞的特征在卵巢癌中富集，加强了这两种疾病之间的流行病学联系。
附：英文原文
Title: Single-cell transcriptomic analysis of endometriosis
Author: Fonseca, Marcos A. S., Haro, Marcela, Wright, Kelly N., Lin, Xianzhi, Abbasi, Forough, Sun, Jennifer, Hernandez, Lourdes, Orr, Natasha L., Hong, Jooyoon, Choi-Kuaea, Yunhee, Maluf, Horacio M., Balzer, Bonnie L., Fishburn, Aaron, Hickey, Ryan, Cass, Ilana, Goodridge, Helen S., Truong, Mireille, Wang, Yemin, Pisarska, Margareta D., Dinh, Huy Q., EL-Naggar, Amal, Huntsman, David G., Anglesio, Michael S., Goodman, Marc T., Medeiros, Fabiola, Siedhoff, Matthew, Lawrenson, Kate
Issue&Volume: 2023-01-09
Abstract: Endometriosis is a common condition in women that causes chronic pain and infertility and is associated with an elevated risk of ovarian cancer. We profiled transcriptomes of >370,000 individual cells from endometriomas (n=8), endometriosis (n=28), eutopic endometrium (n=10), unaffected ovary (n=4) and endometriosis-free peritoneum (n=4), generating a cellular atlas of endometrial-type epithelial cells, stromal cells and microenvironmental cell populations across tissue sites. Cellular and molecular signatures of endometrial-type epithelium and stroma differed across tissue types, suggesting a role for cellular restructuring and transcriptional reprogramming in the disease. Epithelium, stroma and proximal mesothelial cells of endometriomas showed dysregulation of pro-inflammatory pathways and upregulation of complement proteins. Somatic ARID1A mutation in epithelial cells was associated with upregulation of pro-angiogenic and pro-lymphangiogenic factors and remodeling of the endothelial cell compartment, with enrichment of lymphatic endothelial cells. Finally, signatures of ciliated epithelial cells were enriched in ovarian cancers, reinforcing epidemiologic associations between these two diseases.
DOI: 10.1038/s41588-022-01254-1
Source: https://www.nature.com/articles/s41588-022-01254-1
Nature Genetics：《自然—遗传学》，创刊于1992年。隶属于施普林格·自然出版集团，最新IF：41.307
官方网址：https://www.nature.com/ng/
投稿链接：https://mts-ng.nature.com/cgi-bin/main.plex
本期文章：《自然—遗传学》：Online/在线发表
