New Insights into Genetic Neurological Diseases

A special issue of Neurology International (ISSN 2035-8377).

Deadline for manuscript submissions: 31 July 2024 | Viewed by 4481

Special Issue Editors

1. Laboratory of Molecular Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0392, Japan
2. Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan
Interests: molecular mechanisms underlying myelination and demyelination; molecular and cellular therapeutic procedures for Charcot–Marie–Tooth diseases; Pelizaeus–Merzbacher disease and hypomyelinating leukodystrophies; frontotemporal dementia
Laboratory of Ion Channel Pathophysiology, Doshisha University Graduate School of Brain Science, Kyotanabe, Kyoto 610-0394, Japan
Interests: molecular mechanisms underlying myelination and demyelination; molecular and cellular therapeutic procedures for Pelizaeus–Merzbacher disease and hypomyelinating leukodystrophies
Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan
Interests: molecular mechanisms underlying myelination and demyelination; molecular and cellular therapeutic procedures for Charcot–Marie–Tooth diseases; Pelizaeus–Merzbacher disease and hypomyelinating leukodystrophies; frontotemporal dementia

Special Issue Information

Dear Colleagues, 

Significant advances in next-generation nucleic acid sequencing systems have revealed the causes of many neurological disorders and their syndromes due to previously unexpected mutations in protein-encoding genes and non-coding RNAs. In addition, it has been determined familial mutations and fragility mutations in prominent neurological diseases such as Alzheimer’s disease and Parkinson’s disease, as well as tumors derived from ectoderm,  cause these diseases or increase the possibility of developing pathological conditions. Therefore, in this Special Issue, research on the gene mutations and fragility mutations related to the causes of new human neurological diseases, how these gene mutations lead to diseases, or new therapeutic methods for neurological diseases caused by existing mutations will be focused on in vitro studies and reviews using cell lines and disease-derived cells, and in vivo studies and reviews that clarify using experimental animals such as flies, zebrafish, and mice. However, not limited to the scope of these studies, we would like to cover a wide range of research on hereditary mutations.

Prof. Dr. Junji Yamauchi
Dr. Tomohiro Torii
Dr. Yuki Miyamoto
Guest Editors

Manuscript Submission Information

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Keywords

  • genetic mutation
  • hereditary disease
  • neuropathy
  • in vitro
  • in vivo
  • mechanism of action
  • therapeutic procedure
  • intracellular signaling
  • extracellular signaling

Published Papers (2 papers)

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Research

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19 pages, 8489 KiB  
Article
Hypomyelinating Leukodystrophy 10 (HLD10)-Associated Mutations of PYCR2 Form Large Size Mitochondria, Inhibiting Oligodendroglial Cell Morphological Differentiation
by Tomohiro Torii, Remina Shirai, Risa Kiminami, Satoshi Nishino, Takanari Sato, Sui Sawaguchi, Nana Fukushima, Yoichi Seki, Yuki Miyamoto and Junji Yamauchi
Neurol. Int. 2022, 14(4), 1062-1080; https://doi.org/10.3390/neurolint14040085 - 16 Dec 2022
Cited by 2 | Viewed by 1781
Abstract
Hypomyelinating leukodystrophy 10 (HLD10) is an autosomal recessive disease related to myelin sheaths in the central nervous system (CNS). In the CNS, myelin sheaths are derived from differentiated plasma membranes of oligodendrocytes (oligodendroglial cells) and surround neuronal axons to achieve neuronal functions. Nucleotide [...] Read more.
Hypomyelinating leukodystrophy 10 (HLD10) is an autosomal recessive disease related to myelin sheaths in the central nervous system (CNS). In the CNS, myelin sheaths are derived from differentiated plasma membranes of oligodendrocytes (oligodendroglial cells) and surround neuronal axons to achieve neuronal functions. Nucleotide mutations of the pyrroline-5-carboxylate reductase 2 (PYCR2) gene are associated with HLD10, likely due to PYCR2’s loss-of-function. PYCR2 is a mitochondrial residential protein and catalyzes pyrroline-5-carboxylate to an amino acid proline. Here, we describe how each of the HLD10-associated missense mutations, Arg119-to-Cys [R119C] and Arg251-to-Cys [R251C], lead to forming large size mitochondria in the FBD-102b cell line, which is used as an oligodendroglial cell differentiation model. In contrast, the wild type proteins did not participate in the formation of large size mitochondria. Expression of each of the mutated R119C and R251C proteins in cells increased the fusion abilities in mitochondria and decreased their fission abilities relatively. The respective mutant proteins, but not wild type proteins also decreased the activities of mitochondria. While cells expressing the wild type proteins exhibited differentiated phenotypes with widespread membranes and increased expression levels of differentiation marker proteins following the induction of differentiation, cells harboring each of the mutant proteins did not. Taken together, these results indicate that an HLD10-associated PYCR2 mutation leads to the formation of large mitochondria with decreased activities, inhibiting oligodendroglial cell morphological differentiation. These results may reveal some of the pathological mechanisms in oligodendroglial cells underlying HLD10 at the molecular and cellular levels. Full article
(This article belongs to the Special Issue New Insights into Genetic Neurological Diseases)
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Review

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16 pages, 1275 KiB  
Review
New Insights into Risk Genes and Their Candidates in Multiple Sclerosis
by Remina Shirai and Junji Yamauchi
Neurol. Int. 2023, 15(1), 24-39; https://doi.org/10.3390/neurolint15010003 - 29 Dec 2022
Cited by 1 | Viewed by 2113
Abstract
Oligodendrocytes are central nervous system glial cells that wrap neuronal axons with their differentiated myelin membranes as biological insulators. There has recently been an emerging concept that multiple sclerosis could be triggered and promoted by various risk genes that appear likely to contribute [...] Read more.
Oligodendrocytes are central nervous system glial cells that wrap neuronal axons with their differentiated myelin membranes as biological insulators. There has recently been an emerging concept that multiple sclerosis could be triggered and promoted by various risk genes that appear likely to contribute to the degeneration of oligodendrocytes. Despite the known involvement of vitamin D, immunity, and inflammatory cytokines in disease progression, the common causes and key genetic mechanisms remain unknown. Herein, we focus on recently identified risk factors and risk genes in the background of multiple sclerosis and discuss their relationships. Full article
(This article belongs to the Special Issue New Insights into Genetic Neurological Diseases)
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