端粒酶
特发性肺纤维化
端粒
肺
肺纤维化
突变
核糖核蛋白
间质性肺病
癌症研究
异质核核糖核蛋白
生物
医学
调节器
病理
核糖核酸
内科学
遗传学
DNA
基因
作者
Lv Liu,Yunlong Sheng,Chenyu Wang,Xiao Liu,Tao Guo,Hong Peng,Hong Luo,Liangliang Fan
标识
DOI:10.1016/j.bbadis.2023.166692
摘要
Idiopathic pulmonary fibrosis (IPF) is a kind of chronic interstitial lung disease and can be caused by mutations in NHP2 ribonucleoprotein (NHP2), a component of the telomerase complex. We identified a novel mutation (c.70 T > A/p.Y24N) in NHP2 in a Chinese family with IPF, chronic obstructive lung disease and lung carcinoma. A functional study confirmed that this mutation can disrupt the expression and nucleocytoplasmic localization of NHP2, further decrease the expression of Dyskerin Pseudouridine Synthase 1 and Regulator of Telomere Elongation Helicase 1, and reduce the length of telomeres. Our study expanded the mutation and clinical spectrum of NHP2 deficiency.
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