Schwann Cell and the Pathogenesis of Charcot–Marie–Tooth Disease

Murakami, Tatsufumi; Sunada, Yoshihide

doi:10.1007/978-981-32-9636-7_19

Cited by 20 publications

(18 citation statements)

References 128 publications

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“…In addition, terms such as ensheathment of neurons, axon ensheathment, myelination, tRNA aminoacylation for protein translation, peripheral nervous system development, tRNA aminoacylation, amino acid activation, selective autophagy, Schwann cell differentiation, and response to unfolded protein were in the top ten enriched GO terms, indicating the important roles of these activities in the pathologic processes of CMT. The above findings are basically consistent with previous reports [ 13 , 33 , 40 , 41 ].…”

Section: Discussionsupporting

confidence: 93%

Identification of Candidate Genes Associated with Charcot-Marie-Tooth Disease by Network and Pathway Analysis

Zhong

Luo

et al. 2020

BioMed Research International

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Charcot-Marie-Tooth Disease (CMT) is the most common clinical genetic disease of the peripheral nervous system. Although many studies have focused on elucidating the pathogenesis of CMT, few focuses on achieving a systematic analysis of biology to decode the underlying pathological molecular mechanisms and the mechanism of its disease remains to be elucidated. So our study may provide further useful insights into the molecular mechanisms of CMT based on a systematic bioinformatics analysis. In the current study, by reviewing the literatures deposited in PUBMED, we identified 100 genes genetically related to CMT. Then, the functional features of the CMT-related genes were examined by R software and KOBAS, and the selected biological process crosstalk was visualized with the software Cytoscape. Moreover, CMT specific molecular network analysis was conducted by the Molecular Complex Detection (MCODE) Algorithm. The biological function enrichment analysis suggested that myelin sheath, axon, peripheral nervous system, mitochondrial function, various metabolic processes, and autophagy played important roles in CMT development. Aminoacyl-tRNA biosynthesis, metabolic pathways, and vasopressin-regulated water reabsorption were significantly enriched in the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway network, suggesting that these pathways may play key roles in CMT occurrence and development. According to the crosstalk, the biological processes could be roughly divided into a correlative module and two separate modules. MCODE clusters showed that in top 3 clusters, 13 of CMT-related genes were included in the network and 30 candidate genes were discovered which might be potentially related to CMT. The study may help to update the new understanding of the pathogenesis of CMT and expand the potential genes of CMT for further exploration.

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Section: Discussionsupporting

confidence: 93%

Identification of Candidate Genes Associated with Charcot-Marie-Tooth Disease by Network and Pathway Analysis

Zhong

Luo

et al. 2020

BioMed Research International

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“…42,43 Both genetic (eg, Marie-Charcot-Tooth; Ehlers Danlos) and acquired (eg, Type-2 diabetes) neuropathies may affect Schwann cell function and gap junction proteins. [44][45][46][47] There appears to be a relationship between the clinical symptom of pain and myelin damage. It is interesting that perineural injection therapy with dextrose has been used to treat complex regional pain syndromes.…”

Section: Discussionmentioning

confidence: 99%

Ventricular Infusion and Nanoprobes Identify Cerebrospinal Fluid and Glymphatic Circulation in Human Nerves

Pessa

2022

Plastic and Reconstructive Surgery - Global Open

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Background: Growing evidence suggests that cerebrospinal fluid circulates in human nerves. Several conditions encountered by the plastic surgeon may be related to dysregulation of this system, including nerve transection, stretch injuries, and peripheral neuropathy. The purpose of this study was to show how ventricular infusion and nanoprobes identify CSF and glymphatic circulation in neural sheaths of human nerves. Methods:The technique of ventricular infusion using buffered saline was developed in 2017. The technique was used in a series of eight fresh cadavers before dissection of the median nerve, and combined with fluorescent imaging and nanoprobe injections in selected specimens. Results: Eight cadaver specimens underwent ventricular infusion. There were six female and two male specimens, ages 46-97 (mean 76.6). Ventricular cannulation was performed successfully using coordinates 2 cm anterior to coronal suture and 2.5 cm lateral to sagittal suture. Depth of cannulation ranged from 44 to 56 mm (mean 49.7). Ventricular saline infusion complemented by nanoprobe injection suggests CSF flows in neural sheaths, including pia meninges, epineurial channels, perineurium, and myelin sheaths (neurolemma). Conclusions: Ventricular infusion and nanoprobes identify CSF flow in neural sheaths of human nerves. CSF flow in nerves is an open circulatory system that occurs via channels, intracellular flow, and cell-to-cell transport associated with glial cells. Neural sheaths, including neurolemma, may participate in glucose and solute transport to axons. These techniques may be used in anatomic dissection and live animal models, and have been extended to the central nervous system to identify direct ventricle-to-pia meninges CSF pathways.

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“…Currently incurable, this disease is the most prevalent hereditary neurological disorder and affects approximately one in 2,500 people. The most common type of CMT is CMT1A, characterized by a duplication of the pmp22 gene leading to an accumulation of the pmp22 protein in the Schwann cell and progressive demyelination (10,11). PMP22 is a tetraspan glycoprotein contained in compact myelin of the peripheral nervous system.…”

Section: Introductionmentioning

confidence: 99%

Neuromotor impairment, hearing loss and blindness in a preclinical mouse model of Charcot Marie-Tooth disorder

González¹,

Cazevieille²

2020

Preprint

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Schwann cells produce myelin sheath around peripheral nerve axons. Myelination is critical for rapid propagation of action potentials, as illustrated by the large number of acquired and hereditary peripheral neuropathies, such as diabetic neuropathy or Charcot-Marie-Tooth (CMT) diseases, that are commonly associated with a process of demyelination. Peripheral neuropathy is a major complication of diabetes, and the pathomechanism of the disease remains poorly studied. Here, we studied the progressive demyelinating process, hearing impairment and blindness observed in the CMT1A mouse model C3. Our results confirm that these mice represent a robust and validated model to study the peripheral neuropathy induced by CMT disorder allowing to determine the efficacy of new pharmacological candidates targeting demyelinating diseases such as CMT1A disorder.

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Schwann Cell and the Pathogenesis of Charcot–Marie–Tooth Disease

Cited by 20 publications

References 128 publications

Identification of Candidate Genes Associated with Charcot-Marie-Tooth Disease by Network and Pathway Analysis

Identification of Candidate Genes Associated with Charcot-Marie-Tooth Disease by Network and Pathway Analysis

Ventricular Infusion and Nanoprobes Identify Cerebrospinal Fluid and Glymphatic Circulation in Human Nerves

Neuromotor impairment, hearing loss and blindness in a preclinical mouse model of Charcot Marie-Tooth disorder

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