Novel insights into congenital surfactant dysfunction disorders by in silico analysis of ABCA3 proteins  

作　　者：Guo-Liang Xiao Yuan Gao Hu Hao Tao Wei Chun Hong Yue Wang Ying-Yi Lin Xiu-Fang Chi Ying Liu Hong-Yi Gao Chuan Nie 

机构地区：[1]Department of Neonatology,Guangdong Women and Children Hospital,Guangzhou 511442,China [2]Guangdong Neonatal ICU Medical Quality Control Center,Guangzhou 511442,China [3]Department of Marine Science,College of Oceanography,South China Agricultural University,Guangzhou,China [4]Department of Neonatology,The Sixth Affiliated Hospital of Sun Yat-Sen University,Guangzhou,China [5]Department of Bioengineering,College of Food Science and Institute of Food Biotechnology,South China Agricultural University,Guangzhou,China [6]Research Center for Micro-Ecological Agent Engineering and Technology of Guangdong Province,Guangzhou,China [7]Department of Thoracic Surgery,Guangdong Women and Children Hospital,Guangzhou,China [8]Department of Pathology,Guangdong Women and Children Hospital,Guangzhou 511442,Guangzhou,China

出　　处：《World Journal of Pediatrics》2023年第3期293-301,共9页世界儿科杂志（英文版）

基　　金：supported by the Guangzhou Science and Technology Program(201804010090);Natural Science Foundation of Guangdong Province(2018A030313605);Medical Scientific Research Foundation of Guangdong Province(No.B2020128).

摘　　要：Surfactants produced by typeⅡalveolar epithelial cells(AT2 cells)are usually present in inclusion organelles called lamellar bodies(LBs).The ATP-binding cassette subfamily A member 3(ABCA3)transporter primarily exists in AT2 cells and is generally considered to be one of the critical regulators of biogenesis of LBs and surfactant metabolism in the lungs[1-4].ABCA3 mutations are the most com-mon cause of congenital surfactant dysfunction disorders(CSDDs),resulting in fatal neonatal respiratory distress and pediatric or adult interstitial lung disease[3,5-7].More than 200 disease-associated ABCA3 variants have been identi-fied in symptomatic infants and children[8].The estimated prevalence of deleterious ABCA3 mutations in the popu-lation is 1/70-1/33,with a predicted disease incidence of 1/20,000-1/4400[7].

关 键 词：CONGENITAL metabolism DISTRESS 

分 类 号：R72[医药卫生—儿科]