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Genetics and Epigenetics in Neurological Disorders
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Genetics and Epigenetics in Neurological Disorders

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (15 September 2025) | Viewed by 2783

Special Issue Editor

Dr. Julien Philippe

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Guest Editor
Department of Pathology & Laboratory Medicine, University of California, Irvine, CA, USA
Interests: genetic; epigenetic; neurodegeneration; pathomechanisms; neurotherapeutics

Special Issue Information

Dear Colleagues,

Towards a better understanding of neurological diseases, we would like to invite authors to publish their research (original articles or reviews) in a Special Issue in Genes. We wish to put emphasis on the following themes:

  1. Sequencing of underrepresented human ethnicities and the discovery of new gene(s) associated with neurological diseases;
  2. Epigenetic modifications (DNA methylation, histone methylation, etc.) associated with neurological disease, including (but not limited to) those caused by environmental factors;
  3. Cell and animal modelling of neurological diseases to uncover new pathological mechanisms and treatment strategies;
  4. Deciphering cell-autonomous and non-cell-autonomous mechanisms of neurological disease.

Dr. Julien Philippe
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

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. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). 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

  • genetic
  • epigenetic
  • neurodegeneration
  • pathomechanisms
  • neurotherapeutics

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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Research

Jump to: Review

20 pages, 456 KB  
Article
Region-Based Analysis with Functional Annotation Identifies Genes Associated with Cognitive Function in South Asians from India
by Hasan Abu-Amara, Wei Zhao, Zheng Li, Yuk Yee Leung, Gerard D. Schellenberg, Li-San Wang, Priya Moorjani, Aparajit B. Dey, Sharmistha Dey, Xiang Zhou, Alden L. Gross, Jinkook Lee, Sharon L. R. Kardia and Jennifer A. Smith
Genes 2025, 16(6), 640; https://doi.org/10.3390/genes16060640 - 27 May 2025
Cited by 1 | Viewed by 1302
Abstract
Background/Objectives: The prevalence of dementia among South Asians across India is high among those who are 65 years and older, yet little is known about genetic risk factors for dementia in this population. Methods: Using whole-genome sequence data from 2680 participants from the [...] Read more.
Background/Objectives: The prevalence of dementia among South Asians across India is high among those who are 65 years and older, yet little is known about genetic risk factors for dementia in this population. Methods: Using whole-genome sequence data from 2680 participants from the Diagnostic Assessment of Dementia for the Longitudinal Aging Study of India (LASI-DAD), we performed a gene-based analysis on the missense/loss-of-function (LoF) and brain-specific promoter/enhancer variants of 84 genes, previously associated with AD in European Ancestry (EA). These analyses were performed separately, both with and without incorporating additional annotation weights (e.g., deleteriousness, conservation scores), using the variant-Set Test for Association using Annotation infoRmation (STAAR). We investigated associations with the Hindi Mental State Examination (HMSE) score and factor scores for general cognitive function and five cognitive domains. Results: In the missense/LoF analysis, without annotation weights and controlling for age, sex, state/territory, and genetic ancestry, three genes were associated with at least one measure of cognitive function (FDR q < 0.1). APOE was associated with four measures of cognitive function, PICALM was associated with HMSE score, and TSPOAP1 was associated with executive function. The most strongly associated variants in each gene were rs429358 (APOE ε4), rs779406084 (PICALM), and rs9913145 (TSPOAP1). Rs779406084 is a rare missense mutation that is enriched in LASI-DAD compared to EA (minor allele frequency = 0.075% vs. 0.0015%). Conclusions: Missense/LoF variants in some genes previously associated with AD in EA are associated with measures of cognitive function in South Asians from India. Analyzing genome sequence data allows the identification of potential novel causal variants enriched in South Asians. Full article
(This article belongs to the Special Issue Genetics and Epigenetics in Neurological Disorders)
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Review

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18 pages, 313 KB  
Review
Underlying Mechanisms of GBA1 in Parkinson’s Disease and Dementia with Lewy Bodies: Narrative Review
by Anastasia Bougea
Genes 2025, 16(12), 1496; https://doi.org/10.3390/genes16121496 - 15 Dec 2025
Cited by 1 | Viewed by 983
Abstract
Background/Objectives: Parkinson’s disease (PD) and Dementia with Lewy Bodies (DLB) are neurodegenerative disorders characterized by the accumulation of misfolded alpha-synuclein protein in the brain. Mutations in the glucocerebrosidase 1 (GBA1) gene have been identified as a significant genetic risk factor [...] Read more.
Background/Objectives: Parkinson’s disease (PD) and Dementia with Lewy Bodies (DLB) are neurodegenerative disorders characterized by the accumulation of misfolded alpha-synuclein protein in the brain. Mutations in the glucocerebrosidase 1 (GBA1) gene have been identified as a significant genetic risk factor for both PD and DLB. GBA1 encodes for the lysosomal enzyme glucocerebrosidase, which is responsible for the breakdown of glucosylceramide (GC). Deficiencies in glucocerebrosidase activity lead to the accumulation of glucosylceramide within lysosomes, contributing to lysosomal dysfunction and impaired protein degradation. The aim of this narrative review is to update the underlying mechanisms by which GBA1 mutations contribute to the pathogenesis of PD and DLB. Methods: A comprehensive literature search was conducted across four major electronic databases (PubMed, Web of Science (Core Collection), Scopus, and Embase) from inception to 8 November 2025. The initial search identified approximately 1650 articles in total, with the number of hits from each database being as follows: PubMed (~450), Web of Science (~380), Scopus (~520), and Embase (~300). Results: The mechanism by which mutations in the GBA1 gene contribute to PD involves both loss-of- function and gain-of-function pathways, which are not mutually exclusive. Typically, GBA1 mutations lead to a loss of function by reducing the activity of the GCase enzyme, impairing the autophagy- lysosomal pathway and leading to α-synuclein accumulation. However, some mutant forms (GBA1L444P) of the GCase enzyme can also acquire a toxic gain of function, contributing to α-synuclein aggregation through mechanisms like endoplasmic reticulum stress and misfolding. While Venglustat effectively reduced GC levels, a key marker associated with GBA1-PD, the lack of clinical improvement led to the discontinuation of its development for this indication. Conclusions: GBA1-mediated lysosomal and lipid dysregulation represents a key pathogenic axis in PD and DLB. Understanding these mechanisms provides crucial insight into disease progression and highlights emerging therapeutic strategies—such as pharmacological chaperones, substrate reduction therapies, and gene-targeted approaches—aimed at restoring GCase function and lysosomal homeostasis to slow or prevent neurodegeneration. Full article
(This article belongs to the Special Issue Genetics and Epigenetics in Neurological Disorders)
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