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Research on Charcot-Marie-Tooth Disease, from Molecules to Therapy
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Research on Charcot-Marie-Tooth Disease, from Molecules to Therapy

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (20 October 2018) | Viewed by 40465

Special Issue Editor

Prof. Dr. Michel Fontés

E-Mail Website
Guest Editor
Obesity and Risk of Thrombosis Laboratory, Aix Marseille Universite, Marseille, France
Interests: peripheral neuropathies; animal models; drug development; pathophysiology of inherited disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Charcot-Marie-Tooth disease (CMT) is the most frequent inherited disorder affecting peripheral nervous system. Over numerous years, research on CMT were mainly focused on the description of the various clinical presentations of the disease, allowing a classification of the various types of CMT. The last 20 years saw the emergence of translational research on CMT, including the creation of relevant animal models of the disease and the development of therapeutic approaches, leading to the first clinical trials. The purpose of this Special Issue on CMT of IJMS is to collect the most relevant works on CMT. These include new mechanisms involved in pathophysiology of different CMT forms, new animal or cellular models, new biochemical mechanisms opening new tracks, new propositions of therapeutical development. Major requirements for papers submitted to this Special Issue are (i) clear novelty; (ii) opening tracks for future translational research based on molecular research and (iii) a strong rationale background. Papers dealing with minor points concerning already-published research or with clinical data without molecular approaches will be returned without further review.

Prof. Dr. Michel Fontés
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

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Keywords

  • Charcot-Marie Tooth
  • Animal Models
  • Cellular Models
  • Molecular Mechanisms
  • Therapeutic Development

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Published Papers (5 papers)

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Editorial

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5 pages, 186 KiB  
Editorial
Charcot Marie Tooth Disease. A Single Disorder?
by Michel Fontés
Int. J. Mol. Sci. 2018, 19(12), 3807; https://doi.org/10.3390/ijms19123807 - 29 Nov 2018
Cited by 5 | Viewed by 3278
Abstract
Peripheral neuropathies are subdivided into acquired and hereditary transmitted disorders. [...] Full article
(This article belongs to the Special Issue Research on Charcot-Marie-Tooth Disease, from Molecules to Therapy)

Research

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20 pages, 3897 KiB  
Article
Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C
by Silvia Cipriani, Vietxuan Phan, Jean-Jacques Médard, Rita Horvath, Hanns Lochmüller, Roman Chrast, Andreas Roos and Sally Spendiff
Int. J. Mol. Sci. 2018, 19(12), 4072; https://doi.org/10.3390/ijms19124072 - 17 Dec 2018
Cited by 21 | Viewed by 5599
Abstract
The neuromuscular junction (NMJ) appears to be a site of pathology in a number of peripheral nerve diseases. Charcot-Marie-Tooth (CMT) 4C is an autosomal recessive, early onset, demyelinating neuropathy. Numerous mutations in the SH3TC2 gene have been shown to underlie the condition often [...] Read more.
The neuromuscular junction (NMJ) appears to be a site of pathology in a number of peripheral nerve diseases. Charcot-Marie-Tooth (CMT) 4C is an autosomal recessive, early onset, demyelinating neuropathy. Numerous mutations in the SH3TC2 gene have been shown to underlie the condition often associated with scoliosis, foot deformities, and reduced nerve conduction velocities. Mice with exon 1 of the Sh3tc2 gene knocked out demonstrate many of the features seen in patients. To determine if NMJ pathology is contributory to the pathomechanisms of CMT4C we examined NMJs in the gastrocnemius muscle of SH3TC2-deficient mice. In addition, we performed proteomic assessment of the sciatic nerve to identify protein factors contributing to the NMJ alterations and the survival of demyelinated axons. Morphological and gene expression analysis of NMJs revealed a lack of continuity between the pre- and post-synaptic apparatus, increases in post-synaptic fragmentation and dispersal, and an increase in expression of the gamma subunit of the acetylcholine receptor. There were no changes in axonal width or the number of axonal inputs to the NMJ. Proteome investigations of the sciatic nerve revealed altered expression of extracellular matrix proteins important for NMJ integrity. Together these observations suggest that CMT4C pathology includes a compromised NMJ even in the absence of changes to the innervating axon. Full article
(This article belongs to the Special Issue Research on Charcot-Marie-Tooth Disease, from Molecules to Therapy)
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16 pages, 3465 KiB  
Article
Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A
by Saeyoung Park, Namhee Jung, Seoha Myung, Yoonyoung Choi, Ki Wha Chung, Byung-Ok Choi and Sung-Chul Jung
Int. J. Mol. Sci. 2018, 19(8), 2393; https://doi.org/10.3390/ijms19082393 - 14 Aug 2018
Cited by 15 | Viewed by 6407
Abstract
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited motor and sensory neuropathy, and is caused by duplication of PMP22, alterations of which are a characteristic feature of demyelination. The clinical phenotype of CMT1A is determined by the degree of axonal [...] Read more.
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited motor and sensory neuropathy, and is caused by duplication of PMP22, alterations of which are a characteristic feature of demyelination. The clinical phenotype of CMT1A is determined by the degree of axonal loss, and patients suffer from progressive muscle weakness and impaired sensation. Therefore, we investigated the potential of Schwann-like cells differentiated from human tonsil-derived stem cells (T-MSCs) for use in neuromuscular regeneration in trembler-J (Tr-J) mice, a model of CMT1A. After differentiation, we confirmed the increased expression of Schwann cell (SC) markers, including glial fibrillary acidic protein (GFAP), nerve growth factor receptor (NGFR), S100 calcium-binding protein B (S100B), glial cell-derived neurotrophic factor (GDNF), and brain-derived neurotrophic factor (BDNF), which suggests the differentiation of T-MSCs into SCs (T-MSC-SCs). To test their functional efficiency, the T-MSC-SCs were transplanted into the caudal thigh muscle of Tr-J mice. Recipients’ improved locomotive activity on a rotarod test, and their sciatic function index, which suggests that transplanted T-MSC-SCs ameliorated demyelination and atrophy of nerve and muscle in Tr-J mice. Histological and molecular analyses showed the possibility of in situ remyelination by T-MSC-SCs transplantation. These findings demonstrate that the transplantation of heterologous T-MSC-SCs induced neuromuscular regeneration in mice and suggest they could be useful for the therapeutic treatment of patients with CMT1A disease. Full article
(This article belongs to the Special Issue Research on Charcot-Marie-Tooth Disease, from Molecules to Therapy)
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Review

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15 pages, 253 KiB  
Review
Charcot-Marie-Tooth: From Molecules to Therapy
by Jonathan Morena, Anirudh Gupta and J. Chad Hoyle
Int. J. Mol. Sci. 2019, 20(14), 3419; https://doi.org/10.3390/ijms20143419 - 12 Jul 2019
Cited by 114 | Viewed by 17418
Abstract
Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autosomal dominant, though there also are X-linked and autosomal recessive subtypes. In addition to a variety of inheritance patterns, there are a myriad of genes associated with [...] Read more.
Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autosomal dominant, though there also are X-linked and autosomal recessive subtypes. In addition to a variety of inheritance patterns, there are a myriad of genes associated with CMT, reflecting the heterogeneity of this disorder. Next generation sequencing (NGS) has expanded and simplified the diagnostic yield of genes/molecules underlying and/or associated with CMT, which is of paramount importance in providing a substrate for current and future targeted disease-modifying treatment options. Considerable research attention for disease-modifying therapy has been geared towards the most commonly encountered genetic mutations (PMP22, GJB1, MPZ, and MFN2). In this review, we highlight the clinical background, molecular understanding, and therapeutic investigations of these CMT subtypes, while also discussing therapeutic research pertinent to the remaining less common CMT subtypes. Full article
(This article belongs to the Special Issue Research on Charcot-Marie-Tooth Disease, from Molecules to Therapy)
17 pages, 775 KiB  
Review
Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease
by Paloma González-Sánchez, Jorgina Satrústegui, Francesc Palau and Araceli del Arco
Int. J. Mol. Sci. 2019, 20(2), 403; https://doi.org/10.3390/ijms20020403 - 18 Jan 2019
Cited by 19 | Viewed by 6726
Abstract
The pathology of Charcot-Marie-Tooth (CMT), a disease arising from mutations in different genes, has been associated with an impairment of mitochondrial dynamics and axonal biology of mitochondria. Mutations in ganglioside-induced differentiation-associated protein 1 (GDAP1) cause several forms of CMT neuropathy, but [...] Read more.
The pathology of Charcot-Marie-Tooth (CMT), a disease arising from mutations in different genes, has been associated with an impairment of mitochondrial dynamics and axonal biology of mitochondria. Mutations in ganglioside-induced differentiation-associated protein 1 (GDAP1) cause several forms of CMT neuropathy, but the pathogenic mechanisms involved remain unclear. GDAP1 is an outer mitochondrial membrane protein highly expressed in neurons. It has been proposed to play a role in different aspects of mitochondrial physiology, including mitochondrial dynamics, oxidative stress processes, and mitochondrial transport along the axons. Disruption of the mitochondrial network in a neuroblastoma model of GDAP1-related CMT has been shown to decrease Ca2+ entry through the store-operated calcium entry (SOCE), which caused a failure in stimulation of mitochondrial respiration. In this review, we summarize the different functions proposed for GDAP1 and focus on the consequences for Ca2+ homeostasis and mitochondrial energy production linked to CMT disease caused by different GDAP1 mutations. Full article
(This article belongs to the Special Issue Research on Charcot-Marie-Tooth Disease, from Molecules to Therapy)
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