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Primate Model Carrying LMNA Mutation Develops Dilated Cardiomyopathy.

ABSTRACT: 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.

SUBMITTER: Luo X

PROVIDER: S-EPMC10978409 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature

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Primate Model Carrying LMNA Mutation Develops Dilated Cardiomyopathy.

Luo Xiang X Jia Hao H Wang Fang F Mo Han H Kang Yu Y Zhang Ningning N Zhao Lu L Xu Lizhu L Yang Zhengsheng Z Yang Qiaoyan Q Chang Yuan Y Li Shulin S Bian Ning N Hua Xiumeng X Cui Hao H Cao Yu Y Chu Chu C Zeng Yuqiang Y Chen Xinglong X Chen Zhigang Z Ji Weizhi W Long Chengzu C Song Jiangping J Niu Yuyu Y

JACC. Basic to translational science 20240124 3

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 echocardi ...[more]

PMID: 38559624

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