Luo Xiang, Jia Hao, Wang Fang, Mo Han, Kang Yu, Zhang Ningning, Zhao Lu, Xu Lizhu, Yang Zhengsheng, Yang Qiaoyan, Chang Yuan, Li Shulin, Bian Ning, Hua Xiumeng, Cui Hao, Cao Yu, Chu Chu, Zeng Yuqiang, Chen Xinglong, Chen Zhigang, Ji Weizhi, Long Chengzu, Song Jiangping, Niu Yuyu
State Key Laboratory of Primate Biomedical Research, Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, Yunnan, China.
Yunnan Key Laboratory of Primate Biomedical Research, Kunming, Yunnan, China.
JACC Basic Transl Sci. 2024 Jan 24;9(3):380-395. doi: 10.1016/j.jacbts.2023.11.002. eCollection 2024 Mar.
To solve the clinical transformation dilemma of lamin A/C (LMNA)-mutated dilated cardiomyopathy (LMD), we developed an LMNA-mutated primate model based on the similarity between the phenotype of primates and humans. We screened out patients with LMD and compared the clinical data of LMD with TTN-mutated and mutation-free dilated cardiomyopathy to obtain the unique phenotype. After establishment of the LMNA c.357-2A>G primate model, primates were continuously observed for 48 months, and echocardiographic, electrophysiological, histologic, and transcriptional data were recorded. The LMD primate model was found to highly simulate the phenotype of clinical LMD. In addition, the LMD primate model shared a similar natural history with humans.
为了解决 lamin A/C（LMNA）突变型扩张型心肌病（LMD）的临床转化难题，我们基于灵长类动物与人类表型的相似性，构建了一个 LMNA 突变的灵长类动物模型。我们筛选出 LMD 患者，并将 LMD 的临床数据与 TTN 突变型和无突变的扩张型心肌病进行比较，以获得独特的表型。在建立 LMNA c.357-2A>G 灵长类动物模型后，对灵长类动物进行了连续 48 个月的观察，并记录了超声心动图、电生理、组织学和转录数据。发现 LMD 灵长类动物模型高度模拟临床 LMD 的表型。此外，LMD 灵长类动物模型与人类具有相似的自然病史。
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