Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.
Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.
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DOI：
10.1155/2012/171636
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发表时间：
2012
影响因子：
3.1
通讯作者：
Palau F
中科院分区：
文献类型：
--
作者：
Juárez P;Palau F
在周围神经系统疾病中，可塑性与轴突和许旺细胞生物学以及突触形成和连接的变化有关，这也可能是治疗研究的重点。腓骨肌萎缩症（CMT）是一种主要累及运动神经和感觉神经的遗传性周围神经病变，可引起肌肉萎缩和无力。遗传分析已经确定了几种途径和分子机制，涉及髓鞘结构和适当的神经髓鞘形成，转录调控，蛋白质周转，囊泡运输，轴突运输和线粒体动力学。这些致病机制影响许旺细胞和轴突之间的持续信号传导和对话，最终导致髓鞘丢失和神经维持;然而，一些迟发性轴突CMT神经病是许旺细胞特异性变化的结果，不影响髓鞘。了解雪旺细胞轴突相互作用的分子通路不仅可能增加对神经生物学的理解，而且还可能确定分子靶点和细胞通路，以设计用于遗传性神经病和最常见的周围神经病的新治疗方法。这些方法应改善神经肌肉接头处突触连接的可塑性，并基于改善髓鞘和轴突相互作用再生细胞活力。
In the peripheral nervous system disorders plasticity is related to changes on the axon and Schwann cell biology, and the synaptic formations and connections, which could be also a focus for therapeutic research. Charcot-Marie-Tooth disease (CMT) represents a large group of inherited peripheral neuropathies that involve mainly both motor and sensory nerves and induce muscular atrophy and weakness. Genetic analysis has identified several pathways and molecular mechanisms involving myelin structure and proper nerve myelination, transcriptional regulation, protein turnover, vesicle trafficking, axonal transport and mitochondrial dynamics. These pathogenic mechanisms affect the continuous signaling and dialogue between the Schwann cell and the axon, having as final result the loss of myelin and nerve maintenance; however, some late onset axonal CMT neuropathies are a consequence of Schwann cell specific changes not affecting myelin. Comprehension of molecular pathways involved in Schwann cell-axonal interactions is likely not only to increase the understanding of nerve biology but also to identify the molecular targets and cell pathways to design novel therapeutic approaches for inherited neuropathies but also for most common peripheral neuropathies. These approaches should improve the plasticity of the synaptic connections at the neuromuscular junction and regenerate cell viability based on improving myelin and axon interaction.
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DOI：
10.1007/978-90-481-2813-6_12
发表时间：
2009-01-01
期刊：
INHERITED NEUROMUSCULAR DISEASES: TRANSLATION FROM PATHMECHANISMS TO THERAPIES
影响因子：
--
作者：
Berciano, Jose;Garcia, Antonio;Combarros, Onofre
通讯作者：
Combarros, Onofre
DOI：
10.1073/pnas.0905523106
发表时间：
2009-10-13
影响因子：
11.1
作者：
Arnaud, Estelle;Zenker, Jennifer;Chrast, Roman
通讯作者：
Chrast, Roman
影响因子：
6.2
作者：
Birchmeier, Carmen;Nave, Klaus-Armin
通讯作者：
Nave, Klaus-Armin
影响因子：
2.8
作者：
Colomer, Jaume;Gooding, Rebecca;Kalaydjieva, Luba
通讯作者：
Kalaydjieva, Luba
影响因子：
3.5
作者：
Claramunt, R.;Sevilla, T.;Espinos, C.
通讯作者：
Espinos, C.