通过多效性GWAS基因的果蝇模型确定心血管疾病和失眠之间的新联系。

IF 4 3区 医学 Q2 CELL BIOLOGY
Disease Models & Mechanisms Pub Date : 2025-05-01 Epub Date: 2025-05-06 DOI:10.1242/dmm.052139
Farah Abou Daya, Torrey Mandigo, Lily Ober, Dev Patel, Matthew Maher, Suraj Math, Cynthia Tchio, James A Walker, Richa Saxena, Girish C Melkani
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引用次数: 0

摘要

失眠症状使患心血管疾病(CVD)的风险增加一倍,但共享的遗传途径仍不清楚。全基因组关联研究(GWAS)发现了一个与失眠和心血管疾病相关的遗传位点(靠近ATP5G1、UBE2Z、SNF8、IGF2BP1和GIP)。我们使用果蝇模型对神经元和心脏中的四个保守同源基因(ATPSynC、Lsn、Bruce和Imp)进行组织特异性RNAi敲低。神经元特异性敲低ATPSynC、Imp和Lsn会损害睡眠的数量和质量。相反,ATPSynC和Lsn的心脏敲低降低了心脏功能和寿命,Lsn敲低也引起心脏扩张和肌纤维紊乱。跨组织效应很明显:神经元Imp敲低会损害心功能,而心脏ATPSynC和Lsn敲低会增加睡眠碎片和炎症(以心脏或头部Upd3升高为标志)。Upd3在神经元中的过表达会损害心功能,而其在心脏中的过表达会扰乱睡眠。我们的研究结果揭示了保守基因介导睡眠和心脏功能之间的组织特异性和跨组织相互作用,为通过炎症将失眠和心血管疾病联系起来的遗传机制提供了新的见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Identifying links between cardiovascular disease and insomnia by modeling genes from a pleiotropic locus.

Insomnia symptoms double the risk of cardiovascular disease (CVD), yet shared genetic pathways remain unclear. Genome-wide association studies identified a genetic locus (near ATP5G1, UBE2Z, SNF8, IGF2BP1 and GIP) linked to insomnia and CVD. We used Drosophila models to perform tissue-specific RNA interference knockdowns of four conserved orthologs (ATPsynC, lsn, Bruce and Imp) in neurons and the heart. Neuronal-specific knockdown of ATPsynC, Imp and lsn impaired sleep quantity and quality. In contrast, cardiac knockdown of ATPsynC and lsn reduced cardiac function and lifespan, with lsn knockdown also causing cardiac dilation and myofibrillar disorganization. Cross-tissue effects were evident: neuronal Imp knockdown compromised cardiac function, whereas cardiac ATPsynC and lsn knockdown increased sleep fragmentation and inflammation (marked by Upd3 elevation in the heart or head). Overexpression of Upd3 in neurons impaired cardiac function, and its overexpression in the heart disrupted sleep. Our findings reveal conserved genes mediating tissue-specific and cross-tissue interactions between sleep and cardiac function, providing novel insights into the genetic mechanisms linking insomnia and CVD through inflammation.

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来源期刊
Disease Models & Mechanisms
Disease Models & Mechanisms 医学-病理学
CiteScore
6.60
自引率
7.00%
发文量
203
审稿时长
6-12 weeks
期刊介绍: Disease Models & Mechanisms (DMM) is an online Open Access journal focusing on the use of model systems to better understand, diagnose and treat human disease.
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