Special Issue "Neurodevelopmental Disorders: Linking Genetics and Epigenetics to Disease-Related Pathways"

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Medicine".

Deadline for manuscript submissions: closed (31 May 2023) | Viewed by 1841

Special Issue Editors

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, 80131 Naples, Italy
Interests: intellectual disability and developmental epileptic encephalopathies; ARX-KDM5C; disease models; convergent transcriptional pathways
Special Issues, Collections and Topics in MDPI journals
Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, Naples, Italy
Interests: epigenetics; epigenomics; chromatin diseases; Rett syndrome; MeCP2-mediated molecular mechanisms

Special Issue Information

Dear Colleagues,

Neurodevelopmental disorders (NDDs) are a group of genetically heterogeneous diseases in which the development of the central nervous system is disturbed. Identification and functional studies of a large number of NDD genes have been performed over the years, and specific interconnected disease pathways have been discovered. In addition, several NDDs are caused by dysfunctions of epigenetic factors, which often result in large-scale molecular alterations. It is conceivable that targeting a common node in such a disease network could consent to interfering with multiple related NDDs at once.

This Special Issue will focus on distinct and complementary aspects of NDD research: analysis of the molecular mechanisms underlying the intersection of multiple NDD genes involved in specialized brain functions (e.g., chromatin remodeling, neurogenesis, synaptic pruning, neurotransmission, energy metabolism); identification of biomarkers helpful to follow disease onset and age-dependent evolution; and discovery of drugs capable of modulating specific disease networks with encouraging outcomes in cellular and animal models.

Original manuscripts and reviews dealing with any genetic and epigenetic aspect of NDDs and innovative strategies for prevention, diagnosis, and therapeutical intervention are welcome.

Dr. Maria Giuseppina Miano
Dr. Floriana Della Ragione
Guest Editors

Manuscript Submission Information

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Keywords

  • genetics and epigenetics
  • convergent disease pathways
  • biomarkers
  • molecular therapies

Published Papers (1 paper)

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Research

Article
Blood–Brain Barrier Integrity Is Perturbed in a Mecp2-Null Mouse Model of Rett Syndrome
Biomolecules 2023, 13(4), 606; https://doi.org/10.3390/biom13040606 - 28 Mar 2023
Cited by 1 | Viewed by 1098
Abstract
Rett syndrome (RTT, online MIM 312750) is a devastating neurodevelopmental disorder characterized by motor and cognitive disabilities. It is mainly caused by pathogenetic variants in the X-linked MECP2 gene, encoding an epigenetic factor crucial for brain functioning. Despite intensive studies, the RTT pathogenetic [...] Read more.
Rett syndrome (RTT, online MIM 312750) is a devastating neurodevelopmental disorder characterized by motor and cognitive disabilities. It is mainly caused by pathogenetic variants in the X-linked MECP2 gene, encoding an epigenetic factor crucial for brain functioning. Despite intensive studies, the RTT pathogenetic mechanism remains to be fully elucidated. Impaired vascular function has been previously reported in RTT mouse models; however, whether an altered brain vascular homeostasis and the subsequent blood–brain barrier (BBB) breakdown occur in RTT and contribute to the disease-related cognitive impairment is still unknown. Interestingly, in symptomatic Mecp2-null (Mecp2-/y, Mecp2tm1.1Bird) mice, we found enhanced BBB permeability associated with an aberrant expression of the tight junction proteins Ocln and Cldn-5 in different brain areas, in terms of both transcript and protein levels. Additionally, Mecp2-null mice showed an altered expression of different genes encoding factors with a role in the BBB structure and function, such as Cldn3, Cldn12, Mpdz, Jam2, and Aqp4. With this study, we provide the first evidence of impaired BBB integrity in RTT and highlight a potential new molecular hallmark of the disease that might open new perspectives for the setting-up of novel therapeutic strategies. Full article
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