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Genetics of Neurodegenerative Diseases 3.0

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

Deadline for manuscript submissions: closed (31 October 2023) | Viewed by 1835

Special Issue Editor

Special Issue Information

Dear Colleagues,

Genetic susceptibility to neurodegenerative disease has been the subject of a large body of research over the last twenty years. Important results in both monogenic heritable diseases and complex, sporadic disorders have been reached. By contrast, only a few studies have addressed the role of disease-modifying genes and/or pharmacogenomic aspects. This might be related to the difficulty in collecting data on disease evolution and the response to treatment compared to recording disease development. To fill this gap, large collaborative studies aimed at tracking disease evolution are ongoing, and the results are likely to provide insightful information on the determinants of progression.

Variations in glucocerebrosidase (GBA), leucine-rich repeat kinase 2 (LRRK2), and alpha-synuclein (SNCA) genes, just to name a few, have already been associated to specific features of Parkinson’s disease (PD), and an effort was recently made to classify PD subtypes in order to better clarify genotype/phenotype correlations. Furthermore, single nucleotide polymorphisms (SNPs) in receptor genes have been associated with the development of PD complications. Furthermore, research performed in Alzheimer’s disease (AD) showed that variations in serine racemase (SRR) or in 3-Hydroxy-3-Methylglutaryl-CoA reductase (HMGCR) genes can influence disease progression.

Taken altogether, these findings depict a landscape in which individual genetic profiling will be increasingly relevant in a clinical context, with implications for patient care in line with the proposed ideal of personalized medicine.

The aim of this Special Issue of the International Journal of Molecular Sciences is to attract high-quality studies covering the relationship between gene variations and clinical features of neurodegenerative diseases. Contributors are encouraged to submit articles describing novel results, models, viewpoints, perspectives, and/or methodological innovations. We will strive to ensure that the articles of the Special Issue collectively present a cohesive picture of the state-of-the-art in the field and help to advance our understanding and management of neurodegenerative diseases.

The topics we wish to cover include but are not limited to:

  • Genetic determinants of faster neurodegenerative disease evolution;
  • Genetic predisposition to motor and nonmotor complications in PD;
  • The role of genetic background in treatment response in neurodegenerative disease;
  • The genetic background of Parkinson’s disease dementia and Lewy body dementia;
  • Genotype/phenotype correlations in atypical Parkinsonian syndromes.

Prof. Dr. Cristoforo Comi
Guest Editor

Manuscript Submission Information

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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.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Neurodegenerative diseases
  • Parkinson's disease,
  • Huntington disease
  • Other movement disorders
  • Alzheimer's disease;
  • Neuroimmune diseases
  • Multiple sclerosis
  • Inflammatory neuropathies
  • Myasthenia gravis

Published Papers (1 paper)

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Research

12 pages, 989 KiB  
Article
Neuronal Hyperactivation in EEG Data during Cognitive Tasks Is Related to the Apolipoprotein J/Clusterin Genotype in Nondemented Adults
by Natalya V. Ponomareva, Tatiana V. Andreeva, Maria S. Protasova, Svetlana S. Kunizheva, Irina L. Kuznetsova, Ekaterina P. Kolesnikova, Daria D. Malina, Andrey A. Mitrofanov, Vitaly F. Fokin, Sergey N. Illarioshkin and Evgeny I. Rogaev
Int. J. Mol. Sci. 2023, 24(7), 6790; https://doi.org/10.3390/ijms24076790 - 05 Apr 2023
Viewed by 1318
Abstract
The clusterin (CLU) rs11136000 CC genotype is a probable risk factor for Alzheimer’s disease (AD). CLU, also known as the apolipoprotein J gene, shares certain properties with the apolipoprotein E (APOE) gene with a well-established relationship with AD. [...] Read more.
The clusterin (CLU) rs11136000 CC genotype is a probable risk factor for Alzheimer’s disease (AD). CLU, also known as the apolipoprotein J gene, shares certain properties with the apolipoprotein E (APOE) gene with a well-established relationship with AD. This study aimed to determine whether the electrophysiological patterns of brain activation during the letter fluency task (LFT) depend on CLU genotypes in adults without dementia. Previous studies have shown that LFT performance involves activation of the frontal cortex. We examined EEG alpha1 and alpha2 band desynchronization in the frontal regions during the LFT in 94 nondemented individuals stratified by CLU (rs11136000) genotype. Starting at 30 years of age, CLU CC carriers exhibited more pronounced task-related alpha2 desynchronization than CLU CT&TT carriers in the absence of any differences in LFT performance. In CLU CC carriers, alpha2 desynchronization was significantly correlated with age. Increased task-related activation in individuals at genetic risk for AD may reflect greater “effort” to perform the task and/or neuronal hyperexcitability. The results show that the CLU genotype is associated with neuronal hyperactivation in the frontal cortex during cognitive tasks performances in nondemented individuals, suggesting systematic vulnerability of LFT related cognitive networks in people carrying unfavorable CLU alleles. Full article
(This article belongs to the Special Issue Genetics of Neurodegenerative Diseases 3.0)
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