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Stem Cell Technology and Genome Editing in Advanced Disease Modeling
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Stem Cell Technology and Genome Editing in Advanced Disease Modeling

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pharmacology".

Deadline for manuscript submissions: closed (30 April 2024) | Viewed by 2513

Special Issue Editor

Prof. Dr. Suren Zakian

E-Mail Website
Guest Editor
Laboratory of Developmental Epigenetics, Federal Research Centre Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia
Interests: induced pluripotent stem cells; genome editing; human disease modeling
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We are announcing a Special Issue dedicated to the latest advances in genome editing and stem cell research, as well as their applications in biotechnology and biomedicine. Technologies of genome editing not only remain an object and tool in fundamental studies, but also allow researchers to make revolution in medicine. Stem cell technologies have been rapidly improving, allowing new approaches in stem cell therapy, tissue engineering, gene therapy, disease modeling and drug discovery. The issue appreciates both reviews of emerging trends in these research and case studies of successful applications of genome editing and cell technologies in disease modeling.

Led by Prof. Dr. Suren Zakian and assisted by our Topical Advisory Panel Member Dr. Anastasia Malakhova (Laboratory of Developmental Epigenetics, Federal Research Centre Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences), the Special Issue aims to collate topical research from leading scientists working at the cutting edge of modern biotechnology and biomedicine. We consider innovative submissions that fit the scope of the Special Issue from researchers around the world.

Prof. Dr. Suren Zakian
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 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

  • stem cells
  • induced pluripotent stem cells
  • genome editing
  • gene therapy
  • disease modeling
  • drug discovery

Published Papers (2 papers)

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Research

16 pages, 3345 KiB  
Article
iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia
by Irina S. Zakharova, Alexander I. Shevchenko, Mhd Amin Arssan, Aleksei A. Sleptcov, Maria S. Nazarenko, Aleksei A. Zarubin, Nina V. Zheltysheva, Vlada A. Shevchenko, Narek A. Tmoyan, Shoraan B. Saaya, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova and Suren M. Zakian
Int. J. Mol. Sci. 2024, 25(2), 689; https://doi.org/10.3390/ijms25020689 - 05 Jan 2024
Viewed by 1080
Abstract
Defects in the low-density lipoprotein receptor (LDLR) are associated with familial hypercholesterolemia (FH), manifested by atherosclerosis and cardiovascular disease. LDLR deficiency in hepatocytes leads to elevated blood cholesterol levels, which damage vascular cells, especially endothelial cells, through oxidative stress and inflammation. However, the [...] Read more.
Defects in the low-density lipoprotein receptor (LDLR) are associated with familial hypercholesterolemia (FH), manifested by atherosclerosis and cardiovascular disease. LDLR deficiency in hepatocytes leads to elevated blood cholesterol levels, which damage vascular cells, especially endothelial cells, through oxidative stress and inflammation. However, the distinctions between endothelial cells from individuals with normal and defective LDLR are not yet fully understood. In this study, we obtained and examined endothelial derivatives of induced pluripotent stem cells (iPSCs) generated previously from conditionally healthy donors and compound heterozygous FH patients carrying pathogenic LDLR alleles. In normal iPSC-derived endothelial cells (iPSC-ECs), we detected the LDLR protein predominantly in its mature form, whereas iPSC-ECs from FH patients have reduced levels of mature LDLR and show abolished low-density lipoprotein uptake. RNA-seq of mutant LDLR iPSC-ECs revealed a unique transcriptome profile with downregulated genes related to monocarboxylic acid transport, exocytosis, and cell adhesion, whereas upregulated signaling pathways were involved in cell secretion and leukocyte activation. Overall, these findings suggest that LDLR defects increase the susceptibility of endothelial cells to inflammation and oxidative stress. In combination with elevated extrinsic cholesterol levels, this may result in accelerated endothelial dysfunction, contributing to early progression of atherosclerosis and other cardiovascular pathologies associated with FH. Full article
(This article belongs to the Special Issue Stem Cell Technology and Genome Editing in Advanced Disease Modeling)
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16 pages, 2078 KiB  
Article
Back-Up Base Excision DNA Repair in Human Cells Deficient in the Major AP Endonuclease, APE1
by Daria V. Kim, Evgeniia A. Diatlova, Timofey D. Zharkov, Vasily S. Melentyev, Anna V. Yudkina, Anton V. Endutkin and Dmitry O. Zharkov
Int. J. Mol. Sci. 2024, 25(1), 64; https://doi.org/10.3390/ijms25010064 - 20 Dec 2023
Viewed by 906
Abstract
Apurinic/apyrimidinic (AP) sites are abundant DNA lesions generated both by spontaneous base loss and as intermediates of base excision DNA repair. In human cells, they are normally repaired by an essential AP endonuclease, APE1, encoded by the APEX1 gene. Other enzymes can cleave [...] Read more.
Apurinic/apyrimidinic (AP) sites are abundant DNA lesions generated both by spontaneous base loss and as intermediates of base excision DNA repair. In human cells, they are normally repaired by an essential AP endonuclease, APE1, encoded by the APEX1 gene. Other enzymes can cleave AP sites by either hydrolysis or β-elimination in vitro, but it is not clear whether they provide the second line of defense in living cells. Here, we studied AP site repairs in APEX1 knockout derivatives of HEK293FT cells using a reporter system based on transcriptional mutagenesis in the enhanced green fluorescent protein gene. Despite an apparent lack of AP site-processing activity in vitro, the cells efficiently repaired the tetrahydrofuran AP site analog resistant to β-elimination. This ability persisted even when the second AP endonuclease homolog, APE2, was also knocked out. Moreover, APEX1 null cells were able to repair uracil, a DNA lesion that is removed via the formation of an AP site. If AP site hydrolysis was chemically blocked, the uracil repair required the presence of NTHL1, an enzyme that catalyzes β-elimination. Our results suggest that human cells possess at least two back-up AP site repair pathways, one of which is NTHL1-dependent. Full article
(This article belongs to the Special Issue Stem Cell Technology and Genome Editing in Advanced Disease Modeling)
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