ABCA3参与的磷脂代谢在其相关肺疾病中的研究进展  

Advance in ABCA3-involved phospholipid metabolism and its related lung diseases

作　　者：黄以琛 吕秋迟 姚瑶[2] Huang Yichen;Lyu Qiuchi;Yao Yao(School of Pediatric Medicine,Capital Medical University,Beijing 100045,China;Department of Respiratory Medicine,National Clinical Research Center for Respiratory Diseases,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China)

机构地区：[1]首都医科大学儿科医学院,北京100045 [2]国家儿童医学中心、国家呼吸系统疾病临床医学研究中心、首都医科大学附属北京儿童医院呼吸中心,100045

出　　处：《国际儿科学杂志》2024年第9期586-589,共4页International Journal of Pediatrics

基　　金：首都医科大学本科生科研训练项目(XSKY2022353,XSKY2023336)。

摘　　要：三磷酸腺苷结合盒转运蛋白A3(ATP binding cassette transporter A3,ABCA3)是Ⅱ型肺泡细胞中磷脂代谢的关键蛋白,参与表面活性物质的合成。早期研究发现ABCA3基因变异可导致儿童间质性肺疾病(childhood interstitial lung disease,chILD),但发病机制不明。近年来通过对ABCA3蛋白结构的解析和功能研究,对于ABCA3参与磷脂代谢的机制有了新的认识,并启发了针对ABCA3基因变异的小分子药物的研发。该文就ABCA3蛋白参与的磷脂代谢及其相关肺疾病的发病机制、基因型-表型联系、治疗的前沿进展进行综述,提出目前亟待解决的一些问题,为进一步实现ABCA3变异的精准治疗奠定基础。ATP binding cassette transporter A3(ABCA3)is a critical protein involved in phospholipid metabolism in typeⅡalveolar cells,participating in the synthesis of pulmonary surfactant.Early studies have found that mutations in ABCA3 gene can lead to childhood interstitial lung disease(chILD),but the underlying mechanisms remain unclear.Recent elucidation of the ABCA3 structure,coupled with functional inquiries into the protein,has engendered fresh insights into the intricate mechanisms governing phospholipid metabolism orchestrated by ABCA3,inspiring the development of small molecule drugs targeting ABCA3 gene mutations.This article provides a comprehensive review of the involvement of ABCA3 in phospholipid metabolism,the pathogenic mechanisms of related lung diseases,the genotype-phenotype correlations,and the forefront advances in treatment.Additionally,it underscores lingering unresolved queries,aiming to provide a platform for the future refinement of precision treatments for ABCA3 mutations.

关 键 词：三磷酸腺苷结合盒转运蛋白A3 表面活性物质 磷脂代谢 儿童间质性肺疾病 

分 类 号：R725.6[医药卫生—儿科]