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Special Issue Editors

Prof. Dr. Paolo Prontera

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Guest Editor

Medical Genetics Unit, S. Maria della Misericordia Hospital, University of Perugia, 06123 Perugia, Italy
Interests: clinical genetics; medical genetics; cytogenomics; next-generation sequencing technologies applied to human genetics; epigenetics; genotype–phenotype correlation studies in genetic diseases; genetics of intellectual disability and autism; genetics of epilepsy; genetics prenatal diagnosis

Dr. Valentina Imperatore

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Guest Editor

Medical Genetics Unit, Maternal-Infantile Department, Hospital of Perugia, Perugia, Italy
Interests: human genetics; next generation sequencing; intellectual disability and autism; rare complex syndromes

Special Issue Information

Dear Colleagues,

It is our pleasure to announce a new Special Issue of the International Journal of Molecular Sciences on the topic of “Genetics and Epigenetics of Neurodevelopmental Disorders”.

Neurological development disorders are a complex and heterogeneous group of syndromes, mainly caused by chromosomal or genomic anomalies, monogenic diseases, or epigenetic alteration. In this issue, we will offer space to rare genetics conditions leading to intellectual disability variably associated with autism, epilepsy, and congenital anomalies, in order to highlight their clinical correlates and natural course of the disease. More attention will be paid to studies that include methylation analysis and that can add knowledge to the pathogenesis of these syndromes, and, hopefully, to possible therapeutic targets.

We encourage you to submit both case reports and research articles on this crucial topic.

Prof. Dr. Paolo Prontera
Dr. Valentina Imperatore
Guest Editors

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 100 words) can be sent to the Editorial Office for announcement on this website.

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

human genetics
epigenetics
neurodevelopmental disorders

Published Papers (2 papers)

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Research

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13 pages, 2133 KiB

Open AccessArticle

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome

by Kathleen Rooney, Michael A. Levy, Sadegheh Haghshenas, Jennifer Kerkhof, Daniela Rogaia, Maria Giovanna Tedesco, Valentina Imperatore, Amedea Mencarelli, Gabriella Maria Squeo, Eleonora Di Venere, Giuseppe Di Cara, Alberto Verrotti, Giuseppe Merla, Matthew L. Tedder, Barbara R. DuPont, Bekim Sadikovic and Paolo Prontera

Int. J. Mol. Sci. 2021, 22(16), 8611; https://doi.org/10.3390/ijms22168611 - 10 Aug 2021

Cited by 13 | Viewed by 2552

Abstract

The 22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder in humans and is the result of a recurrent 1.5 to 2.5 Mb deletion, encompassing approximately 20–40 genes, respectively. The clinical presentation of the typical deletion includes: Velocardiofacial, Di George, Opitz G/BBB and Conotruncalanomaly face syndromes. Atypical deletions (proximal, distal or nested) are rare and characterized mainly by normal phenotype or mild intellectual disability and variable clinical features. The pathogenetic mechanisms underlying this disorder are not completely understood. Because the 22q11.2 region harbours genes coding for transcriptional factors and chromatin remodelers, in this study, we performed analysis of genome-wide DNA methylation of peripheral blood from 49 patients with 22q11.2DS using the Illumina Infinium Methylation EPIC bead chip arrays. This cohort comprises 43 typical, 2 proximal and 4 distal deletions. We demonstrated the evidence of a unique and highly specific episignature in all typical and proximal 22q11.2DS. The sensitivity and specificity of this signature was further confirmed by comparing it to over 1500 patients with other neurodevelopmental disorders with known episignatures. Mapping the 22q11.2DS DNA methylation episignature provides both novel insights into the molecular pathogenesis of this disorder and an effective tool in the molecular diagnosis of 22q11.2DS. Full article

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

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Review

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13 pages, 709 KiB

Open AccessReview

A Possible Role for HMG-CoA Reductase Inhibitors and Its Association with HMGCR Genetic Variation in Parkinson’s Disease

by Anna Pierzchlińska, Marek Droździk and Monika Białecka

Int. J. Mol. Sci. 2021, 22(22), 12198; https://doi.org/10.3390/ijms222212198 - 11 Nov 2021

Cited by 8 | Viewed by 2204

Abstract

Parkinson’s disease (PD) is the second most common neurodegenerative disease characterised by both motor- and non-motor symptoms, including cognitive impairment. The aetiopathogenesis of PD, as well as its protective and susceptibility factors, are still elusive. Neuroprotective effects of 3-hydroxy-3-methyl-glutaryl-coenzyme A (HMG-CoA) reductase inhibitors—statins—via both cholesterol-dependent and independent mechanisms have been shown in animal and cell culture models. However, the available data provide conflicting results on the role of statin treatment in PD patients. Moreover, cholesterol is a vital component for brain functions and may be considered as protective against PD. We present possible statin effects on PD under the hypothesis that they may depend on the HMG-CoA reductase gene (HMGCR) variability, such as haplotype 7, which was shown to affect cholesterol synthesis and statin treatment outcome, diminishing possible neuroprotection associated with HMG-CoA reductase inhibitors administration. Statins are among the most prescribed groups of drugs. Thus, it seems important to review the available data in the context of their possible neuroprotective effects in PD, and the HMG-CoA reductase gene’s genetic variability. Full article

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

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