Shirota Yuko, Ohmori Shin'ya, Engel James Douglas, Moriguchi Takashi
Division of Hematology and Rheumatology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
Department of Pharmacy, Faculty of Pharmacy, Takasaki University of Health and Welfare, Takasaki, Japan.
PLoS One. 2024 Dec 31;19(12):e0315446. doi: 10.1371/journal.pone.0315446. eCollection 2024.
The vascular endothelium is vital for cardio-pulmonary homeostasis and, thus, plays a crucial role in preventing life-threatening lung diseases. The transcription factor GATA2 is essential for hematopoiesis and maintaining vascular integrity. Heterozygous mutations in GATA2 can lead to a primary immunodeficiency syndrome with pulmonary manifestations. Some GATA2 haploinsufficient patients develop pulmonary hypertension (PH), characterized by vascular remodeling and occlusion of small pulmonary arteries. However, the mechanism underlying pulmonary vascular remodeling in GATA2 haploinsufficient patients remain unclear. To understand how GATA2 deficiency affects pulmonary artery homeostasis, we applied a chronic hypoxia-mediated PH model using inducible systemic Gata2 conditionally deficient (G2-CKO) mice. The G2-CKO mice exhibited augmented pulmonary vascular remodeling, with enhanced α-smooth muscle actin accumulation and increased apoptotic cells in the vascular wall upon chronic hypoxia. Transcript analysis and chromatin immunoprecipitation assays using mouse pulmonary vascular endothelial cells revealed that GATA2 directly regulates the expression of G6pdx (a crucial cytoprotective enzyme) and Bmp4 (a growth factor that mediates vascular homeostasis). These results suggest that GATA2-deficient lungs are vulnerable to the hypoxic stress due to a diminished cellular protective response, making G2-CKO mice more prone to vascular remodeling upon chronic hypoxia. These findings provide insights into the mechanisms underlying GATA2-haploinsufficiency-related pulmonary hypertension.
血管内皮对于心肺稳态至关重要,因此在预防危及生命的肺部疾病中发挥着关键作用。转录因子GATA2对造血和维持血管完整性至关重要。GATA2的杂合突变可导致一种具有肺部表现的原发性免疫缺陷综合征。一些GATA2单倍体不足的患者会发展为肺动脉高压(PH),其特征为血管重塑和小肺动脉闭塞。然而,GATA2单倍体不足患者肺血管重塑的潜在机制仍不清楚。为了了解GATA2缺乏如何影响肺动脉稳态,我们使用可诱导的全身性Gata2条件性缺陷(G2-CKO)小鼠应用了慢性低氧介导的PH模型。G2-CKO小鼠表现出增强的肺血管重塑,在慢性低氧时血管壁中α平滑肌肌动蛋白积累增加且凋亡细胞增多。使用小鼠肺血管内皮细胞进行的转录分析和染色质免疫沉淀试验表明,GATA2直接调节G6pdx(一种关键的细胞保护酶)和Bmp4(一种介导血管稳态的生长因子)的表达。这些结果表明,由于细胞保护反应减弱,GATA2缺乏的肺易受低氧应激影响,使得G2-CKO小鼠在慢性低氧时更容易发生血管重塑。这些发现为GATA2单倍体不足相关肺动脉高压的潜在机制提供了见解。