Molecular Genetics and Pathogenesis of Motor Neuron Disease

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Neurogenomics".

Deadline for manuscript submissions: 25 November 2025 | Viewed by 682

Special Issue Editor


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Guest Editor
1. Department of Clinical Pharmacology, Faculty of Pharmaceutical Sciences, Sanyo-Onoda City University, Sanyo-Onoda 756-0884, Japan
2. Division of Cell Proliferation, Tohoku University Graduate School of Medicine, Sendai 980-8576, Japan
Interests: motor neuron disease; neurodevelopmental disorders; ubiquitin; chromatin
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Special Issue Information

Dear Colleagues,

Motor neuron disease is a debilitating disorder for which effective therapeutics have been elusive for centuries. Research advancements, particularly those supported by evolving technologies, such as DNA, RNA, and protein omics, have gradually culminated clinically effective treatments, as exemplified by Onasemnogene abeparvovec, which targets spinal muscular atrophy. While further advances are anticipated, satisfactory therapies remain unavailable. To promote research that is crucial for therapeutic development in motor neuron disease, this Special Issue will consist of a collection of original research and comprehensive review articles focusing on molecular genetics and analyses of motor neuron disease at the molecular, cellular, and phenotypic levels. These articles will aim not only to reaffirm the recent research progress for scholars already engaged in motor neuron disease but also to ignite interest among researchers not yet involved in this field, providing fresh insights into this disorder. 

Dr. Tadashi Nakagawa
Guest Editor

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Keywords

  • motor neuron disease
  • molecular genetics
  • molecular and cellular analyses
  • phenotypic characterization
  • therapeutic development
  • clinical applications
  • omic technologies

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Published Papers (1 paper)

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Review

17 pages, 1321 KiB  
Review
The Molecular Intersection of NEK1, C21ORF2, Cyclin F, and VCP in ALS Pathogenesis
by Yasuaki Watanabe, Tadashi Nakagawa, Makiko Nakagawa and Keiko Nakayama
Genes 2025, 16(4), 407; https://doi.org/10.3390/genes16040407 - 30 Mar 2025
Viewed by 435
Abstract
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by the progressive degeneration of motor neurons, leading to muscle weakness, paralysis, and death. Although significant progress has been made in understanding ALS, its molecular mechanisms remain complex and multifactorial. This review explores [...] Read more.
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by the progressive degeneration of motor neurons, leading to muscle weakness, paralysis, and death. Although significant progress has been made in understanding ALS, its molecular mechanisms remain complex and multifactorial. This review explores the potential convergent mechanisms underlying ALS pathogenesis, focusing on the roles of key proteins including NEK1, C21ORF2, cyclin F, VCP, and TDP-43. Recent studies suggest that mutations in C21ORF2 lead to the stabilization of NEK1, while cyclin F mutations activate VCP, resulting in TDP-43 aggregation. TDP-43 aggregation, a hallmark of ALS, impairs RNA processing and protein transport, both of which are essential for neuronal function. Furthermore, TDP-43 has emerged as a key player in DNA damage repair, translocating to DNA damage sites and recruiting repair proteins. Given that NEK1, VCP, and cyclin F are also involved in DNA repair, this review examines how these proteins may intersect to disrupt DNA damage repair mechanisms, contributing to ALS progression. Impaired DNA repair and protein homeostasis are suggested to be central downstream mechanisms in ALS pathogenesis. Ultimately, understanding the interplay between these pathways could offer novel insights into ALS and provide potential therapeutic targets. This review aims to highlight the emerging connections between protein aggregation, DNA damage repair, and cellular dysfunction in ALS, fostering a deeper understanding of its molecular basis and potential avenues for intervention. Full article
(This article belongs to the Special Issue Molecular Genetics and Pathogenesis of Motor Neuron Disease)
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