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Rare Disease Modelling and Its Vital Role in Human Health

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (28 February 2023) | Viewed by 3193

Special Issue Editors


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Guest Editor
SAPIENZA, Università di Roma, Rome, Italy
Interests: telomeres; DNA repair; mitochondria; drosophila

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Guest Editor
Institute of Molecular Biology and Pathology (IBPM), Rome, Italy
Interests: neurodegeneration; neurological disorder; drosophila

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Guest Editor
Department of Biology and Biotechnologies “Charles Darwin”, Sapienza University of Rome, 00185 Rome, Italy
Interests: Drosophila melanogaster; neuromuscular disorders; histones modifications; aging; chromatin remodeling; genetic stability

Special Issue Information

Dear Colleagues,

The constant improvement of sequencing procedures is increasing our comprehension of the genetics that underlies rare diseases. However, for most diseases understanding how genomic variants lead to pathological phenotypes remains a tough challenge. Studies in patients aimed to validate the effects of mutations are almost prohibitive for ethical and technical reasons, and especially for human sample accessibility. Exploiting animal models to carry out experiments that cannot be performed in humans, represents an excellent alternative to dissect the molecular pathways affected in each disorder and to select targets genetically linked to the disease, which can lead to novel therapeutic approaches. The improvement of even more powerful and sophisticate genetic and molecular tool kits for disease model organisms, allows to efficiently validate novel variants found in patients and permit to establish genotype-phenotype correlations that are essential for deciphering the pathogenesis. Finally, animal disease models can serve as pre-clinical systems for testing novel therapeutic strategies, as well as conventional drugs, before starting clinical trials on humans.

The goal of our current Special Issue in Rare-Disease Modeling and Its role in Human Health is to collect high quality publications, as either original articles or updated reviews, on how animal models unveil genetic and molecular mechanisms underpinning various rare diseases. We also welcome manuscripts that describe the use of unconventional, as well as more traditional animal models, for the identification of targets, biomarkers or novel methods for the treatment of rare diseases.

Prof. Dr. Giovanni Cenci
Dr. Gianluca Cestra
Prof. Dr. Laura Ciapponi
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

  • rare diseases
  • model organisms
  • human genetics
  • monogenic diseases
  • disease treatments
  • pathogenic variants

Published Papers (2 papers)

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Research

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20 pages, 2466 KiB  
Article
Behavioral Phenotyping of Bbs6 and Bbs8 Knockout Mice Reveals Major Alterations in Communication and Anxiety
by Nathalie Rödig, Kristin Sellmann, Malena dos Santos Guilherme, Vu Thu Thuy Nguyen, Dirk Cleppien, Albrecht Stroh, Helen Louise May-Simera and Kristina Endres
Int. J. Mol. Sci. 2022, 23(23), 14506; https://doi.org/10.3390/ijms232314506 - 22 Nov 2022
Cited by 1 | Viewed by 1411
Abstract
The primary cilium is an organelle with a central role in cellular signal perception. Mutations in genes that encode cilia-associated proteins result in a collection of human syndromes collectively termed ciliopathies. Of these, the Bardet-Biedl syndrome (BBS) is considered one of the archetypical [...] Read more.
The primary cilium is an organelle with a central role in cellular signal perception. Mutations in genes that encode cilia-associated proteins result in a collection of human syndromes collectively termed ciliopathies. Of these, the Bardet-Biedl syndrome (BBS) is considered one of the archetypical ciliopathies, as patients exhibit virtually all respective clinical phenotypes, such as pathological changes of the retina or the kidney. However, the behavioral phenotype associated with ciliary dysfunction has received little attention thus far. Here, we extensively characterized the behavior of two rodent models of BBS, Bbs6/Mkks, and Bbs8/Ttc8 knockout mice concerning social behavior, anxiety, and cognitive abilities. While learning tasks remained unaffected due to the genotype, we observed diminished social behavior and altered communication. Additionally, Bbs knockout mice displayed reduced anxiety. This was not due to altered adrenal gland function or corticosterone serum levels. However, hypothalamic expression of Lsamp, the limbic system associated protein, and Adam10, a protease acting on Lsamp, were reduced. This was accompanied by changes in characteristics of adult hypothalamic neurosphere cultures. In conclusion, we provide evidence that behavioral changes in Bbs knockout mice are mainly found in social and anxiety traits and might be based on an altered architecture of the hypothalamus. Full article
(This article belongs to the Special Issue Rare Disease Modelling and Its Vital Role in Human Health)
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Review

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13 pages, 1193 KiB  
Review
Modeling Myotonic Dystrophy Type 2 Using Drosophila melanogaster
by Marta Marzullo, Sonia Coni, Assia De Simone, Gianluca Canettieri and Laura Ciapponi
Int. J. Mol. Sci. 2023, 24(18), 14182; https://doi.org/10.3390/ijms241814182 - 16 Sep 2023
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Abstract
Myotonic dystrophy 2 (DM2) is a genetic multi-systemic disease primarily affecting skeletal muscle. It is caused by CCTGn expansion in intron 1 of the CNBP gene, which encodes a zinc finger protein. DM2 disease has been successfully modeled in Drosophila melanogaster, allowing the identification [...] Read more.
Myotonic dystrophy 2 (DM2) is a genetic multi-systemic disease primarily affecting skeletal muscle. It is caused by CCTGn expansion in intron 1 of the CNBP gene, which encodes a zinc finger protein. DM2 disease has been successfully modeled in Drosophila melanogaster, allowing the identification and validation of new pathogenic mechanisms and potential therapeutic strategies. Here, we describe the principal tools used in Drosophila to study and dissect molecular pathways related to muscular dystrophies and summarize the main findings in DM2 pathogenesis based on DM2 Drosophila models. We also illustrate how Drosophila may be successfully used to generate a tractable animal model to identify novel genes able to affect and/or modify the pathogenic pathway and to discover new potential drugs. Full article
(This article belongs to the Special Issue Rare Disease Modelling and Its Vital Role in Human Health)
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