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Molecular Pathology and Diagnosis of Neurodegenerative Disorders

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 (26 January 2025) | Viewed by 1649

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Guest Editor
Department of CNS Drug Innovation, Graduate School of Pharmaceutical Sciences, Tohoku University, Sendai 980-8578, Japan
Interests: CaMKII; neuropsychiatry disorders; drug addiction; neuroinflammation; dementia
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Special Issue Information

Dear Colleagues,

This Special Issue aims to explore the latest advancements in understanding the molecular mechanisms underlying neurodegenerative diseases, with a focus on α-synucleinopathies such as Parkinson’s disease, dementia with Lewy bodies and multiple-system atrophy. Contributions will highlight cutting-edge research on the role of α-synuclein aggregation, genetic mutations and cellular pathways in disease progression. By delving into molecular pathology, we seek to uncover novel biomarkers and diagnostic tools that can aid in the early detection and differentiation of these disorders. Topics on the search for new drug targets and the development of therapeutics are also very welcome. This Special Issue will serve as a comprehensive resource for researchers and clinicians striving to develop targeted therapies and improve patient outcomes.

Dr. Ichiro Kawahata
Guest Editor

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Keywords

  • α-synucleinopathies
  • Parkinson’s disease
  • dementia with lewy bodies
  • multiple-system atrophy
  • molecular pathology
  • neurodegenerative disorders
  • biomarkers
  • diagnostic tools
  • genetic mutations
  • cellular pathways

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Published Papers (1 paper)

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Research

13 pages, 3249 KiB  
Article
Association of Novel Pathogenic Variant (p. Ile366Asn) in PLA2G6 Gene with Infantile Neuroaxonal Dystrophy
by Asma Naseer Cheema, Ruyu Shi and M. Ilyas Kamboh
Int. J. Mol. Sci. 2025, 26(1), 352; https://doi.org/10.3390/ijms26010352 - 3 Jan 2025
Viewed by 824
Abstract
A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with a comparable condition. We [...] Read more.
A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with a comparable condition. We aimed to evaluate a novel coding pathogenic variant c.1097T>A, PLA2G6, within the affected family, previously identified in a deceased cousin, but its clinical significance remained undetermined. A 200 bp PCR product of target genome (including codon 366 of PLA2G6) was amplified followed by enzymatic digestion (MboI) and sequencing. Structural pathogenic variant analysis was performed using PyMOL 2.5.4. In RFLP analysis, the mutant-type allele produced a single band of 200 bp, and the wild-type allele manifested as two bands of 112 bp and 88 bp. The pathogenic variant was identified in nine family members, including two heterozygous couples with consanguineous marriages resulting in affected children. It was predicted to be deleterious by multiple bioinformatic tools. The substitution of nonpolar isoleucine with polar asparagine of iPLA2 (Ile366Asn) resulted in a eense pathogenic variant (ATC>AAC). A missense variant (p. Ile366Asn) in the PLA2G6 gene is associated with clinically evident infantile neuroaxonal dystrophy, which is transmitted in an autosomal recessive pattern, and is also predicted to be dysfunctional by bioinformatic analyses. Full article
(This article belongs to the Special Issue Molecular Pathology and Diagnosis of Neurodegenerative Disorders)
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