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双侧瘫和四肢瘫脑瘫患儿半腱肌腱的全基因组表达谱分析

Whole Genome Expression Profiling of Semitendinosus Tendons from Children with Diplegic and Tetraplegic Cerebral Palsy.

作者信息

Nemska Simona, Serio Simone, Larcher Veronica, Beltrame Giulia, Portinaro Nicola Marcello, Bang Marie-Louise

机构信息

Milan Unit, Institute of Genetic and Biomedical Research (IRGB), National Research Council (CNR), 20138 Milan, Italy.

IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy.

出版信息

Biomedicines. 2023 Oct 28;11(11):2918. doi: 10.3390/biomedicines11112918.

Abstract

Cerebral palsy (CP) is the most common movement disorder in children, with a prevalence ranging from 1.5 to 4 per 1000 live births. CP is caused by a non-progressive lesion of the developing brain, leading to progressive alterations of the musculoskeletal system, including spasticity, often leading to the development of fixed contractures, necessitating tendon lengthening surgery. Total RNA-sequencing analysis was performed on semitendinosus tendons from diplegic and tetraplegic CP patients subjected to tendon lengthening surgery compared to control patients undergoing anterior cruciate ligament reconstructive surgery. Tetraplegic CP patients showed increased expression of genes implicated in collagen synthesis and extracellular matrix (ECM) turnover, while only minor changes were observed in diplegic CP patients. In addition, tendons from tetraplegic CP patients showed an enrichment for upregulated genes involved in vesicle-mediated transport and downregulated genes involved in cytokine and apoptotic signaling. Overall, our results indicate increased ECM turnover with increased net synthesis of collagen in tetraplegic CP patients without activation of inflammatory and apoptotic pathways, similar to observations in athletes where ECM remodeling results in increased tendon stiffness and tensile strength. Nevertheless, the resulting increased tendon stiffness is an important issue in clinical practice, where surgery is often required to restore joint mobility.

摘要

脑性瘫痪(CP)是儿童中最常见的运动障碍,发病率为每1000例活产中有1.5至4例。CP是由发育中的大脑非进行性病变引起的,导致肌肉骨骼系统的进行性改变,包括痉挛,常导致固定挛缩的发展,需要进行肌腱延长手术。对接受肌腱延长手术的双侧瘫和四肢瘫CP患者的半腱肌肌腱进行全RNA测序分析,并与接受前交叉韧带重建手术的对照患者进行比较。四肢瘫CP患者中与胶原蛋白合成和细胞外基质(ECM)周转相关的基因表达增加,而双侧瘫CP患者仅观察到微小变化。此外,四肢瘫CP患者的肌腱显示参与囊泡介导运输的上调基因和参与细胞因子及凋亡信号传导的下调基因富集。总体而言,我们的结果表明,四肢瘫CP患者的ECM周转增加,胶原蛋白净合成增加,且炎症和凋亡途径未激活,这与运动员中观察到的ECM重塑导致肌腱刚度和拉伸强度增加的情况相似。然而,由此导致的肌腱刚度增加在临床实践中是一个重要问题,因为通常需要手术来恢复关节活动度。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de4f/10669597/499e8119aace/biomedicines-11-02918-g001.jpg

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