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Genetics and Epigenetics of Neurodegenerative Diseases

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Dear Colleagues,

For numerous neurodegenerative diseases, the precise molecular mechanisms initiating these conditions remain unclear. Understanding these mechanisms, especially those manifesting in the early stages of the diseases, is crucial for the development of safe and effective treatments, as well as the implementation of suitable preventive measures. In addition to numerous genes involved in neurodegenerative processes, epigenetic alterations of DNA and DNA-associated proteins are often associated with such pathological conditions. Furthermore, lifestyle choices such as diet, drug abuse, alcohol use, and environmental pollution likely contribute to the onset of neurodegenerative diseases.

In this Special Issue, we invite you to submit original research articles or literature reviews that provide cutting-edge insights into the molecular events underlying neurodegeneration. We welcome contributions that shed light on the genetic and epigenetic basis of neurodegenerative diseases, as well as articles describing natural compounds with neuroprotective effects that can be utilized as molecules to prevent neurodegenerative phenomena.

Prof. Dr. Salvatore Saccone
Guest Editor

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Keywords

genetics
neurodegenerative diseases
Alzheimer disease

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16 pages, 5611 KiB

Open AccessArticle

Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders

by Simone Treccarichi, Francesco Calì, Mirella Vinci, Alda Ragalmuto, Antonino Musumeci, Concetta Federico, Carola Costanza, Maria Bottitta, Donatella Greco, Salvatore Saccone and Maurizio Elia

Curr. Issues Mol. Biol. 2024, 46(7), 6407-6422; https://doi.org/10.3390/cimb46070383 - 26 Jun 2024

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Abstract

SRY-box transcription factor (SOX) genes, a recently discovered gene family, play crucial roles in the regulation of neuronal stem cell proliferation and glial differentiation during nervous system development and neurogenesis. Whole exome sequencing (WES) in patients presenting with generalized epilepsy, intellectual disability, and childhood emotional behavioral disorder, uncovered a de novo variation within SOX12 gene. Notably, this gene has never been associated with neurodevelopmental disorders. No variants in known genes linked with the patient’s symptoms have been detected by the WES Trio analysis. To date, any MIM phenotype number associated with intellectual developmental disorder has not been assigned for SOX12. In contrast, both SOX4 and SOX11 genes within the same C group (SoxC) of the Sox gene family have been associated with neurodevelopmental disorders. The variant identified in the patient here described was situated within the critical high-mobility group (HMG) functional site of the SOX12 protein. This domain, in the Sox protein family, is essential for DNA binding and bending, as well as being responsible for transcriptional activation or repression during the early stages of gene expression. Sequence alignment within SoxC (SOX12, SOX4 and SOX11) revealed a high conservation rate of the HMG region. The in silico predictive analysis described this novel variant as likely pathogenic. Furthermore, the mutated protein structure predictions unveiled notable changes with potential deleterious effects on the protein structure. The aim of this study is to establish a correlation between the SOX12 gene and the symptoms diagnosed in the patient. Full article

(This article belongs to the Special Issue Genetics and Epigenetics of Neurodegenerative Diseases)

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14 pages, 2630 KiB

Open AccessArticle

Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy

by Mirella Vinci, Girolamo Aurelio Vitello, Donatella Greco, Simone Treccarichi, Alda Ragalmuto, Antonino Musumeci, Antonio Fallea, Concetta Federico, Francesco Calì, Salvatore Saccone and Maurizio Elia

Curr. Issues Mol. Biol. 2024, 46(2), 1150-1163; https://doi.org/10.3390/cimb46020073 - 29 Jan 2024

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Abstract

Ion channelopathies result from impaired ion channel protein function, due to mutations affecting ion transport across cell membranes. Over 40 diseases, including neuropathy, pain, migraine, epilepsy, and ataxia, are associated with ion channelopathies, impacting electrically excitable tissues and significantly affecting skeletal muscle. Gene mutations affecting transmembrane ionic flow are strongly linked to skeletal muscle disorders, particularly myopathies, disrupting muscle excitability and contraction. Electromyography (EMG) analysis performed on a patient who complained of weakness and fatigue revealed the presence of primary muscular damage, suggesting an early-stage myopathy. Whole exome sequencing (WES) did not detect potentially causative variants in known myopathy-associated genes but revealed a novel homozygous deletion of the P2RX6 gene likely disrupting protein function. The P2RX6 gene, predominantly expressed in skeletal muscle, is an ATP-gated ion channel receptor belonging to the purinergic receptors (P2RX) family. In addition, STRING pathways suggested a correlation with more proteins having a plausible role in myopathy. No previous studies have reported the implication of this gene in myopathy. Further studies are needed on patients with a defective ion channel pathway, and the use of in vitro functional assays in suppressing P2RX6 gene expression will be required to validate its functional role. Full article

(This article belongs to the Special Issue Genetics and Epigenetics of Neurodegenerative Diseases)

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