SLCO2A1基因相关慢性肠病的发病机制研究进展
Advances in the pathogenesis of chronic enteropathy associated with SLCO2A1 gene
黄婧怡 1刘长征 2李玥1
作者信息
- 1. 中国医学科学院 北京协和医学院 北京协和医院消化内科,北京 100730
- 2. 中国医学科学院基础医学研究所 北京协和医学院基础学院 疑难重症及罕见病全国重点实验室,北京 100005
- 折叠
摘要
SLCO2A 1基因相关慢性肠病(CEAS)是一种以多发非特异性小肠浅溃疡为特征的罕见疾病,目前缺乏有效的内科治疗手段.SLCO2A1基因的功能丧失性突变是导致CEAS发生的原因,然而基因突变下游的靶向细胞及靶向分子机制仍有待进一步研究.本文从前列腺素E2代谢障碍学说、免疫学说、内皮功能障碍学说、Maxi-Cl通道学说、表观遗传学学说5个方面分别论述目前有关CEAS发病机制的研究进展,并提出前景与展望.
Abstract
Chronic enteropathy associated with SLCO2A1 gene(CEAS)is a rare disease characterized by multiple non-specific superficial ulcers in the small intestine,for which there is a lack of effective medical treatment.Loss-of-function mutations in the SLCO2A1 gene contribute to the onset of CEAS.However,the downstream target cell and molecular mechanisms of the gene mutation still require further investigation.In this article,we comprehensively review recent findings regarding the pathogenesis of CEAS,encompassing five aspects:PGE2 metabolic disorder,immunology,endothelial dysfunction,Maxi-Cl channel,and epigenetics,while also presenting future prospects and outlook.
关键词
SLCO2A1基因相关慢性肠病/基因,SLCO2A1/有机阴离子转运多肽2A1/前列腺素E2/原发性肥厚性骨关节病Key words
Chronic enteropathy associated with SLCO2A1 gene/Gene,SLCO2A1/Organic anion transporting polypeptide 2A1/Prostaglandin E2/Primary hypertrophic osteoarthropathy引用本文复制引用
出版年
2024
NETL
NSTL
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