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Advances in Rare Diseases Biomarkers: 2nd Edition
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Advances in Rare Diseases Biomarkers: 2nd Edition

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: 28 February 2025 | Viewed by 2252

Special Issue Editor

Dr. Andrea Bernini

E-Mail Website
Guest Editor
Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy
Interests: structural biology; rare diseases; metabolomics; nuclear magnetic resonance; protein dynamics; protein core & surface; transient pockets
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

A rare disease is a health condition with a lower prevalence than common diseases. The World Health Organization defines a rare disease as one that strikes fewer than 65 per 100,000 people. However, their combined effect is significant: around 7000 rare diseases affect approximately 350 million people worldwide.

Biomarkers play a crucial role in diagnosing and monitoring rare diseases, which are often challenging to detect and understand due to their low prevalence and diverse clinical manifestations. Biomarkers serve as measurable indicators of biological processes or conditions in rare diseases, offering valuable insights into disease mechanisms and progression. These markers may include genetic mutations, protein levels, or other molecular signatures unique to a rare condition. The discovery and validation of such biomarkers contribute to early detection and the development of targeted therapies, allowing for more effective and personalised treatment approaches.

As technology advances, the integration of omics technologies, such as genomics, proteomics, and metabolomics, has further expanded the repertoire of potential biomarkers, fostering a deeper understanding of rare diseases and paving the way for innovative diagnostic and therapeutic strategies. Biomarkers enhance our ability to navigate diagnostic challenges and promise to improve patient care and foster breakthroughs in treatment modalities.

For the Special Issue, we continue looking for original research articles and state-of-the-art reviews on novel and established proteomic, metabolomic, or transcriptomic biomarkers that can help us better understand the underlying molecular mechanisms of rare diseases. Additionally, we are interested in biomarkers that can be used to diagnose and predict the prognosis of rare diseases and determine individual responses to therapies.

Dr. Andrea Bernini
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

  • orphan diseases
  • rare diseases
  • inborn errors of metabolism
  • mitochondrial disorders
  • biomarker discovery

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Published Papers (3 papers)

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Research

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19 pages, 2655 KiB  
Article
Extracellular Hsp70 and Circulating Endometriotic Cells as Novel Biomarkers for Endometriosis
by Christiane Guder, Soraya Heinrich, Vanadin Seifert-Klauss, Marion Kiechle, Lisa Bauer, Rupert Öllinger, Andreas Pichlmair, Marie-Nicole Theodoraki, Veena Ramesh, Ali Bashiri Dezfouli, Barbara Wollenberg, Alan Graham Pockley and Gabriele Multhoff
Int. J. Mol. Sci. 2024, 25(21), 11643; https://doi.org/10.3390/ijms252111643 - 30 Oct 2024
Viewed by 580
Abstract
Stress-inducible heat shock protein 70 (Hsp70), which functions as a molecular chaperone and is frequently overexpressed in different cancer cell types, is present on the cell surface of tumor cells and is actively released into the circulation in free and extracellular lipid vesicle-associated [...] Read more.
Stress-inducible heat shock protein 70 (Hsp70), which functions as a molecular chaperone and is frequently overexpressed in different cancer cell types, is present on the cell surface of tumor cells and is actively released into the circulation in free and extracellular lipid vesicle-associated forms. Since the exact pathomechanism of endometriosis has not yet been elucidated (although it has been associated with the development of endometrial and ovarian cancer), we asked whether extracellular Hsp70 and circulating endometriotic cells (CECs) reflect the presence and development of endometriosis. Therefore, circulating levels of free and lipid microvesicle-associated Hsp70 were measured using the Hsp70-exo ELISA, and the presence of circulating CECs in the peripheral blood of patients with endometriosis was determined using membrane Hsp70 (mHsp70) and EpCAM monoclonal antibody (mAb)-based bead isolation approaches. Isolated CECs were further characterized by immunofluorescence using reagents directed against cytokeratin (epithelial marker), CD45 (leukocyte marker), CD105/CD44 (mesenchymal stemness markers) and by comparative RNA analysis. Similar to the situation in patients with cancer, the levels of circulating Hsp70 were elevated in the blood of patients with histologically proven endometriosis compared to a healthy control cohort, with significantly elevated Hsp70 levels in endometriosis patients with lesions outside the uterine cavity. Moreover, CECs could be isolated using the cmHsp70.1 mAb-based, and to a lesser extent EpCAM mAb-based, bead approach in all patients with endometriosis, with the highest counts obtained using the mHsp70-targeting procedure in patients with extra-uterine involvement. The longevity in cell culture and the expression of the cytokeratins CD105 and CD44, together with differentially expressed genes related to epithelial-to-mesenchymal transition (EMT), revealed similarities between mHsp70-expressing CECs and circulating tumor cells (CTCs) and suggest a mesenchymal stem cell origin. These findings support the involvement of mHsp70-positive stem cell-like cells in the development of endometriotic lesions. In summary, elevated levels of Hsp70 and CECs in the circulation could serve as liquid biopsy markers for endometriosis with extra-uterine involvement and help to elucidate the underlying pathomechanism of the disease. Full article
(This article belongs to the Special Issue Advances in Rare Diseases Biomarkers: 2nd Edition)
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Review

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16 pages, 2417 KiB  
Review
NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome
by Jun Xin Lee, Yan Jin Tan and Noor Akmal Shareela Ismail
Int. J. Mol. Sci. 2024, 25(22), 12275; https://doi.org/10.3390/ijms252212275 - 15 Nov 2024
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Abstract
NPHS1 and NPHS2 are kidney gene components that encode for nephrin and podocin, respectively. They play a role in the progression of congenital (CNS) and steroid-resistant (SRNS) nephrotic syndrome. Hence, this study aimed to determine the prevalence and renal outcomes of NPHS mutations [...] Read more.
NPHS1 and NPHS2 are kidney gene components that encode for nephrin and podocin, respectively. They play a role in the progression of congenital (CNS) and steroid-resistant (SRNS) nephrotic syndrome. Hence, this study aimed to determine the prevalence and renal outcomes of NPHS mutations among pediatric patients with CNS and SRNS. We also aimed to identify potential predictors of NPHS mutations in this patient cohort. Overall, this study included 33 studies involving 2123 patients screened for NPHS1, whereas 2889 patients from 40 studies were screened for NPHS2 mutations. The patients’ mean age was 4.9 ± 1 years (ranging from birth to 18 years), and 56% of patients were male (n = 1281). Using the random-effects model, the pooled proportion of NPHS1 mutations among pediatric patients with CNS and SRNS was 0.15 (95% CI 0.09; 0.24, p < 0.001, I2 = 92.0%). The pooled proportion of NPHS2 mutations was slightly lower, at 0.11 (95% CI 0.08; 0.14, p < 0.001, I2 = 73.8%). Among the 18 studies that reported ESRF, the pooled proportion was 0.47 (95% CI 0.34; 0.61, p < 0.001, I2 = 75.4%). Our study showed that the NPHS1 (β = 1.16, p = 0.35) and NPHS2 (β = 5.49, p = 0.08) mutations did not predict ESRF in CNS and SRNS pediatric patients. Nevertheless, patients from the European continent who had the NPHS2 mutation had a significantly higher risk of developing ESRF (p < 0.05, β = 1.3, OR = 7.97, 95% CI 0.30; 2.30) compared to those who had the NPHS1 mutation. We recommend NPHS mutation screening for earlier diagnosis and to avoid unnecessary steroid treatments. More data are needed to better understand the impact of NPHS mutations among pediatric patients with CNS and SRNS. Full article
(This article belongs to the Special Issue Advances in Rare Diseases Biomarkers: 2nd Edition)
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47 pages, 4071 KiB  
Review
Photodynamic Therapy: Past, Current, and Future
by David Aebisher, Sara Czech, Klaudia Dynarowicz, Maciej Misiołek, Katarzyna Komosińska-Vassev, Aleksandra Kawczyk-Krupka and Dorota Bartusik-Aebisher
Int. J. Mol. Sci. 2024, 25(20), 11325; https://doi.org/10.3390/ijms252011325 - 21 Oct 2024
Viewed by 1098
Abstract
The Greek roots of the word “photodynamic” are as follows: “phos” (φω~ς) means “light” and “dynamis” (δύναμις) means “force” or “power”. Photodynamic therapy (PDT) is an innovative treatment method based on the ability of photosensitizers to produce reactive oxygen species [...] Read more.
The Greek roots of the word “photodynamic” are as follows: “phos” (φω~ς) means “light” and “dynamis” (δύναμις) means “force” or “power”. Photodynamic therapy (PDT) is an innovative treatment method based on the ability of photosensitizers to produce reactive oxygen species after the exposure to light that corresponds to an absorbance wavelength of the photosensitizer, either in the visible or near-infrared range. This process results in damage to pathological cancer cells, while minimizing the impact on healthy tissues. PDT is a promising direction in the treatment of many diseases, with particular emphasis on the fight against cancer and other diseases associated with excessive cell growth. The power of light contributed to the creation of phototherapy, whose history dates back to ancient times. It was then noticed that some substances exposed to the sun have a negative effect on the body, while others have a therapeutic effect. This work provides a detailed review of photodynamic therapy, from its origins to the present day. It is surprising how a seemingly simple beam of light can have such a powerful healing effect, which is used not only in dermatology, but also in oncology, surgery, microbiology, virology, and even dentistry. However, despite promising results, photodynamic therapy still faces many challenges. Moreover, photodynamic therapy requires further research and improvement. Full article
(This article belongs to the Special Issue Advances in Rare Diseases Biomarkers: 2nd Edition)
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