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New Advances in the Treatment and Diagnosis of Neuromuscular Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: 31 December 2024 | Viewed by 350

Special Issue Editor


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Guest Editor
Unicamillus, International Medical University in Rome, 00131 Rome, Italy
Interests: neuromuscular diseases; epigenetic pharmacology; regenerative medicine; clinical diagnostic testing

Special Issue Information

Dear Colleagues,

Recent progress in the diagnosis and treatment of neuromuscular diseases is transforming patient care. These disorders are now being approached with innovative therapies and advanced diagnostic tools.

Key breakthroughs involve the use of gene therapies, exon skipping with antisense oligonucleotides and CRISPR-Cas9 for gene editing. Additionally, the application of stem cell therapy is being explored to regenerate damaged muscle tissue and restore function. Pharmacological therapies promoting muscle growth and function are also showing promise, particularly when used in combination with genetic treatments.

Advancements in diagnostic techniques have revolutionized the field of neuromuscular diseases. Next-generation sequencing allows for rapid and precise identification of genetic mutations associated with various neuromuscular disorders. This not only facilitates early diagnosis but also enables personalized treatment plans tailored to individual genetic profiles. Recently discovered new biomarkers are also crucial, offering valuable tools for early diagnosis, disease progression monitoring, and treatment efficacy evaluation.

This Special Issue aims to provide a more comprehensive overview of these cutting-edge developments in the Treatment and Diagnosis of Neuromuscular Diseases.

We welcome both original research and review articles.

Dr. Silvia Consalvi
Guest Editor

Manuscript Submission Information

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Keywords

  • neuromuscular diseases
  • gene therapies
  • stem cell therapy
  • treatment and diagnosis

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Published Papers (1 paper)

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Research

13 pages, 1299 KiB  
Article
Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria
by Derek Atkinson, Teodora Chamova, Ayse Candayan, Kristina Kastreva, Ognian Asenov, Ivan Litvinenko, Alejandro Estrada-Cuzcano, Els De Vriendt, Georgi Kukushev, Ivailo Tournev and Albena Jordanova
Int. J. Mol. Sci. 2024, 25(16), 9047; https://doi.org/10.3390/ijms25169047 (registering DOI) - 21 Aug 2024
Viewed by 255
Abstract
Charcot–Marie–Tooth neuropathy type 4D (CMT4D) is a rare genetic disorder of the peripheral nervous system caused by biallelic mutations in the N-Myc Downstream Regulated 1 gene (NDRG1). Patients present with an early onset demyelinating peripheral neuropathy causing severe distal muscle weakness [...] Read more.
Charcot–Marie–Tooth neuropathy type 4D (CMT4D) is a rare genetic disorder of the peripheral nervous system caused by biallelic mutations in the N-Myc Downstream Regulated 1 gene (NDRG1). Patients present with an early onset demyelinating peripheral neuropathy causing severe distal muscle weakness and sensory loss, leading to loss of ambulation and progressive sensorineural hearing loss. The disorder was initially described in the Roma community due to a common founder mutation, and only a handful of disease-causing variants have been described in this gene so far. Here, we present genetic and clinical findings from a large Bulgarian cohort of demyelinating CMT patients harboring recurrent and novel variants in the NDRG1 gene. Notably, two splice-site variants are exclusive to Bulgarian Muslims and reside in ancestral haplotypes, suggesting a founder effect. Functional characterization of these novel variants implicates a loss-of-function mechanism due to shorter gene products. Our findings contribute to a deeper understanding of the genetic and clinical heterogeneity of CMT4D and highlight novel founder mutations in the ethnic minority of Bulgarian Muslims. Full article
(This article belongs to the Special Issue New Advances in the Treatment and Diagnosis of Neuromuscular Diseases)
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