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Rare Diseases with Vascular Involvement
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Rare Diseases with Vascular Involvement

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

Deadline for manuscript submissions: closed (30 June 2022) | Viewed by 10568

Special Issue Editor

Dr. Luisa M. Botella

E-Mail Website
Guest Editor
Centro de Investigaciones Biológicas, Margarita Salas (CSIC), 28040 Madrid, Spain
Interests: genetics; TGF-β; vascular disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

It is a pleasure to contact you as experts in the field of this Special Issue as potential contributors with your research.  

Rare diseases (RDs) are named after their incidence: lower than 5:10,000 inhabitants. Typically, RDs are underdiagnosed, with little active research, and missing therapeutic solutions. Therefore, the therapies for these diseases are designated as “orphan drugs”.  For all these reasons, research in the diagnosis, molecular basis of the disease, and search for therapies is a challenge for current translational research to face. Rare vascular diseases cover a broad range of disorders, affecting large- and medium-sized vessels, including lymphatic vessels. They may be syndromic or non-syndromic, with localized lesions or multisystemic organic involvement. In addition, certain rare tumors are endothelial in origin. This Special Issue aims to highlight the current knowledge on these vascular rare diseases, regarding diagnosis and management with the new sequencing strategies, biomarkers, and the molecular basis of the diseases. Moreover, in vitro and in vivo results looking for therapeutic targets and drugs are also a highly appreciated contribution for this Special Issue. 

Dr. Luisa M. Botella
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

  • arteriovenous malformations
  • cavernomas
  • hemangioblastomas
  • infantile hemangioma
  • hypoxia inducible factor
  • transforming growth factor beta (TGF-β)
  • PIK3CA, genotype–phenotype correlation
  • transcription regulation
  • biomarkers

Published Papers (3 papers)

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Research

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10 pages, 2793 KiB  
Article
Hypoxia Promotes Angiogenic Effect in Extracranial Arteriovenous Malformation Endothelial Cells
by Joon Seok Lee, Hyun Geun Cho, Jeong Yeop Ryu, Eun Jung Oh, Hyun Mi Kim, Suin Kwak, Seok-Jong Lee, Jongmin Lee, Sang Yub Lee, Seung Huh, Ji Yoon Kim and Ho Yun Chung
Int. J. Mol. Sci. 2022, 23(16), 9109; https://doi.org/10.3390/ijms23169109 - 14 Aug 2022
Cited by 2 | Viewed by 1552
Abstract
Arteriovenous malformation (AVM) is characterized by high-flow blood vessels connecting arteries and veins without capillaries. This disease shows increased angiogenesis and a pathophysiological hypoxic environment in proximal tissues. Here, we analyzed the effects of hypoxia on angiogenesis in the endothelial cells (ECs) of [...] Read more.
Arteriovenous malformation (AVM) is characterized by high-flow blood vessels connecting arteries and veins without capillaries. This disease shows increased angiogenesis and a pathophysiological hypoxic environment in proximal tissues. Here, we analyzed the effects of hypoxia on angiogenesis in the endothelial cells (ECs) of AVM and normal tissues. ECs from human normal and AVM tissues were evaluated using immunocytochemistry with CD31. In vitro tube formation under hypoxia was tested in both ECs using Matrigel. The relative expression of angiogenesis-related genes was measured using real-time PCR. Under normoxia, CD31 was significantly higher in AVM ECs (79.23 ± 0.65%) than in normal ECs (74.15 ± 0.70%). Similar results were observed under hypoxia in AVM ECs (63.85 ± 1.84%) and normal ECs (60.52 ± 0.51%). In the tube formation test under normoxic and hypoxic conditions, the junction count and total vessel length were significantly greater in AVM ECs than normal ECs. Under both normoxia and hypoxia, the angiogenesis-related gene FSTL1 showed a significantly higher expression in AVM ECs than in normal ECs. Under hypoxia, CSPG4 expression was significantly lower in AVM ECs than in normal ECs. Accordingly, the angiogenic effect was increased in AVM ECs compared with that in normal ECs. These results provide a basic knowledge for an AVM treatment strategy. Full article
(This article belongs to the Special Issue Rare Diseases with Vascular Involvement)
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15 pages, 2215 KiB  
Article
Blockade of β2-Adrenergic Receptor Reduces Inflammation and Oxidative Stress in Clear Cell Renal Cell Carcinoma
by Virginia Albiñana, Lucía Recio-Poveda, Pilar González-Peramato, Luis Martinez-Piñeiro, Luisa María Botella and Angel M. Cuesta
Int. J. Mol. Sci. 2022, 23(3), 1325; https://doi.org/10.3390/ijms23031325 - 25 Jan 2022
Cited by 4 | Viewed by 2635
Abstract
Von Hippel-Lindau (VHL) syndrome is a rare inherited cancer disease where the lack of VHL protein triggers the development of multisystemic tumors such us retinal hemangioblastomas (HBs), CNS-HBs, and clear cell renal cell carcinoma (ccRCC). Since standard therapies in VHL have shown limited [...] Read more.
Von Hippel-Lindau (VHL) syndrome is a rare inherited cancer disease where the lack of VHL protein triggers the development of multisystemic tumors such us retinal hemangioblastomas (HBs), CNS-HBs, and clear cell renal cell carcinoma (ccRCC). Since standard therapies in VHL have shown limited response, leaving surgery as the only possible treatment, targeting of the β2-adrenergic receptor (ADRB2) has shown therapeutic antitumor benefits on VHL-retinal HBs (clinical trial), VHL-CNS HBs, and VHL-ccRCC (in vitro and in vivo). In the present study, we wanted to look deep into the effects of the ADRB2 blockers propranolol and ICI-118,551 on two main aspects of cancer progression: (i) the changes on the inflammatory response of ccRCC cells; and (ii) the modulation on the Warburg effect (glycolytic metabolism), concretely, on the expression of genes involved in the cell reactive oxygen species (ROS) balance and levels. Accordingly, in vitro studies with primary VHL-ccRCC and 786-O cells measuring ROS levels, ROS-expression of detoxifying enzymes, and the expression of p65/NF-κB targets by RT-PCR were carried out. Furthermore, histological analyses of ccRCC samples from heterotopic mouse xenografts were performed. The obtained results show that ADRB2 blockade in ccRCC cells reduces the level of oxidative stress and stabilizes the inflammatory response. Thus, these data further support the idea of targeting ADRB2 as a promising strategy for the treatment of VHL and other non-VHL tumors. Full article
(This article belongs to the Special Issue Rare Diseases with Vascular Involvement)
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Review

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12 pages, 933 KiB  
Review
The Role of Propranolol as a Repurposed Drug in Rare Vascular Diseases
by Angel M. Cuesta, Eunate Gallardo-Vara, Juan Casado-Vela, Lucía Recio-Poveda, Luisa-María Botella and Virginia Albiñana
Int. J. Mol. Sci. 2022, 23(8), 4217; https://doi.org/10.3390/ijms23084217 - 11 Apr 2022
Cited by 8 | Viewed by 5469
Abstract
Rare Diseases (RD) are defined by their prevalence in less than 5 in 10,000 of the general population. Considered individually, each RD may seem insignificant, but together they add up to more than 7000 different diseases. Research in RD is not attractive for [...] Read more.
Rare Diseases (RD) are defined by their prevalence in less than 5 in 10,000 of the general population. Considered individually, each RD may seem insignificant, but together they add up to more than 7000 different diseases. Research in RD is not attractive for pharmaceutical companies since it is unlikely to recover development costs for medicines aimed to small numbers of patients. Since most of these diseases are life threatening, this fact underscores the urgent need for treatments. Drug repurposing consists of identifying new uses for approved drugs outside the scope of the original medical indication. It is an alternative option in drug development and represents a viable and risk-managed strategy to develop for RDs. In 2008, the “off label” therapeutic benefits of propranolol were described in the benign tumor Infantile Hemangioma. Propranolol, initially prescribed for high blood pressure, irregular heart rate, essential tremor, and anxiety, has, in the last decade, shown increasing evidence of its antiangiogenic, pro-apoptotic, vasoconstrictor and anti-inflammatory properties in different RDs, including vascular or oncological pathologies. This review highlights the finished and ongoing trials in which propranolol has arisen as a good repurposing drug for improving the health condition in RDs. Full article
(This article belongs to the Special Issue Rare Diseases with Vascular Involvement)
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