Posey Karen L, Coustry Francoise, Veerisetty Alka C, Hossain Mohammad, Alcorn Joseph L, Hecht Jacqueline T
Department of Pediatrics, University of Texas Medical School at Houston, Houston, TX, USA and
Department of Pediatrics, University of Texas Medical School at Houston, Houston, TX, USA and.
Hum Mol Genet. 2015 Jul 15;24(14):3918-28. doi: 10.1093/hmg/ddv122. Epub 2015 Apr 9.
Pseudoachondroplasia (PSACH), a severe short-limb dwarfing condition, results from mutations that cause misfolding of the cartilage oligomeric matrix protein (COMP). Accumulated COMP in growth plate chondrocytes activates endoplasmic reticulum stress, leading to inflammation and chondrocyte death. Using a MT-COMP mouse model of PSACH that recapitulates the molecular and clinical PSACH phenotype, we previously reported that oxidative stress and inflammation play important and unappreciated roles in PSACH pathology. In this study, we assessed the ability of antioxidant and anti-inflammatory agents to affect skeletal and cellular pathology in our mouse model of PSACH. Treatment of MT-COMP mice with aspirin or resveratrol from birth to P28 decreased mutant COMP intracellular retention and chondrocyte cell death, and restored chondrocyte proliferation. Inflammatory markers associated with cartilage degradation and eosinophils were present in the joints of untreated juvenile MT-COMP mice, but were undetectable in treated mice. Most importantly, these treatments resulted in significantly increased femur length. This is the first and only therapeutic approach shown to mitigate both the chondrocyte and long-bone pathology of PSACH in a mouse model and suggests that reducing inflammation and oxidative stress early in the disease process may be a novel approach to treat this disorder.
假性软骨发育不全(PSACH)是一种严重的短肢侏儒症,由导致软骨寡聚基质蛋白(COMP)错误折叠的突变引起。生长板软骨细胞中积累的COMP激活内质网应激,导致炎症和软骨细胞死亡。我们之前使用一种重现PSACH分子和临床表型的MT-COMP小鼠模型报道,氧化应激和炎症在PSACH病理过程中起重要但未被重视的作用。在本研究中,我们评估了抗氧化剂和抗炎剂对我们的PSACH小鼠模型中骨骼和细胞病理的影响。从出生到P28用阿司匹林或白藜芦醇治疗MT-COMP小鼠,可减少突变COMP在细胞内的滞留和软骨细胞死亡,并恢复软骨细胞增殖。未治疗的幼年MT-COMP小鼠关节中存在与软骨降解相关的炎症标志物和嗜酸性粒细胞,但在治疗小鼠中未检测到。最重要的是,这些治疗导致股骨长度显著增加。这是在小鼠模型中显示可减轻PSACH软骨细胞和长骨病理的第一种也是唯一的治疗方法,表明在疾病过程早期减轻炎症和氧化应激可能是治疗这种疾病的一种新方法。