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Coagulation Factors and Natural Anticoagulants in Health and Disease
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Coagulation Factors and Natural Anticoagulants in Health and Disease

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: 20 July 2026 | Viewed by 3497

Special Issue Editor

Dr. Zsuzsanna Bereczky

E-Mail Website
Guest Editor
Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary
Interests: thrombosis; haemostasis; bleeding disorders; molecular genetics; laboratory medicine
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

There are several well-known functions of coagulation factors and natural anticoagulants involved not only in maintaining hemostasis but also in other different physiological processes. The deficiencies of coagulation factors and inhibitors may lead to a variety of clinical symptoms as a result of different molecular mechanisms operating in the background. By understanding genotype–phenotype correlations and describing the novel functions and molecular interactions of these proteins involved in blood coagulation, finding novel diagnostic and therapeutic solutions becomes promising. This Special Issue focuses on the roles of coagulation factors and natural anticoagulants in health and diseases, and studies conducted at the molecular level, in silico and in a clinical laboratory are welcome to improve our knowledge concerning the structure, function, and behaviour of these factors in normal conditions; their alterations in diseases; and laboratory solutions for detecting their presence and function under different circumstances.

Dr. Zsuzsanna Bereczky
Guest Editor

Manuscript Submission Information

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Keywords

  • coagulation factor
  • natural anticoagulant
  • hemostasis
  • thrombosis
  • molecular studies
  • molecular interactions
  • structure
  • functional studies

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Published Papers (4 papers)

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Research

14 pages, 1554 KB  
Article
Genetic and Clinical Characteristics of Russian Patients with Congenital Factor V Deficiency
by Olesya Pshenichnikova, Julia Poznyakova, Ekaterina Shchemeleva, Vadim Surin, Elena Yakovleva, Elena Likhacheva, Oksana Dimitrieva, Olga Yastrubinetskaya, Nikolay Andreev, Natalia Sats and Nadezhda Zozulya
Int. J. Mol. Sci. 2026, 27(8), 3646; https://doi.org/10.3390/ijms27083646 - 19 Apr 2026
Viewed by 395
Abstract
Congenital factor V (FV) deficiency is a rare autosomal recessive bleeding disorder caused by pathogenic variants in F5 gene and characterized by heterogeneous clinical manifestations. The aim of this study was to define the mutational spectrum of F5 in Russian patients with congenital [...] Read more.
Congenital factor V (FV) deficiency is a rare autosomal recessive bleeding disorder caused by pathogenic variants in F5 gene and characterized by heterogeneous clinical manifestations. The aim of this study was to define the mutational spectrum of F5 in Russian patients with congenital FV deficiency. We analyzed 16 unrelated patients with different disease severity and 9 relatives from five families. All functionally relevant regions of F5 were examined by Sanger sequencing. Multiplex ligation-dependent probe amplification (MLPA) was used to detect large deletions and duplications. Whole-genome sequencing and functional cDNA analysis were performed in selected cases. This study represents the first description of the F5 mutational spectrum in a Russian cohort. We identified 12 novel variants and demonstrated the functional effect of two previously unreported variants located outside canonical splice-site dinucleotides, leading to aberrant splicing. Notably, the proportion of variants undetectable by routine diagnostic approaches was higher than that reported in other populations. No clear genotype–phenotype correlation was observed. Despite the limited sample size, our findings expand current knowledge of the molecular basis of congenital FV deficiency and may improve genetic diagnostics in Russia. Full article
(This article belongs to the Special Issue Coagulation Factors and Natural Anticoagulants in Health and Disease)
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14 pages, 270 KB  
Article
Genetic and Clinical Determinants of Chronic Thromboembolic Pulmonary Hypertension: The Role of PAI-1 Polymorphism
by Özgür Batum, Merve Ayık Türk, Yelda Varol, Berk Özyılmaz, Alp Eren Akarçay, Nigar Dirican, Sibel Doruk and Sami Deniz
Int. J. Mol. Sci. 2026, 27(2), 758; https://doi.org/10.3390/ijms27020758 - 12 Jan 2026
Viewed by 555
Abstract
Chronic thromboembolic pulmonary disease (CTEPD) is a severe long-term complication of acute pulmonary thromboembolism (PTE). Its pathogenesis is multifactorial, involving incomplete thrombus resolution, hemodynamic burden, comorbidities, and genetic factors. However, the contribution of inherited thrombophilic mutations to CTEPD development remains controversial. This retrospective [...] Read more.
Chronic thromboembolic pulmonary disease (CTEPD) is a severe long-term complication of acute pulmonary thromboembolism (PTE). Its pathogenesis is multifactorial, involving incomplete thrombus resolution, hemodynamic burden, comorbidities, and genetic factors. However, the contribution of inherited thrombophilic mutations to CTEPD development remains controversial. This retrospective cohort study included 204 patients diagnosed with acute PTE at a tertiary referral center between December 2023 and December 2024. Baseline demographic, clinical, laboratory, and echocardiographic data were collected. Genetic analysis assessed Factor II, Factor V Leiden, MTHFR C677T, MTHFR A1298C, Factor XIII V34L, and PAI-1 4G/5G polymorphisms. Patients were followed for at least 12 months for the development of CTEPD, defined according to guideline-based hemodynamic and imaging criteria. During follow-up, 17 patients (8.3%) developed CTEPD. Patients with CTEPD were significantly older and had higher baseline and follow-up systolic pulmonary artery pressure (sPAP) (p < 0.001), elevated NT-proBNP and troponin levels (both p < 0.001), and more frequent comorbidities, including cardiac and renal disease. Multivariate logistic regression identified comorbid diseases (HR: 0.17, 95% CI: 0.039–0.80, p = 0.025) and genetic thrombophilic factors (HR: 0.30, 95% CI: 0.10–0.91, p = 0.034) as independent predictors. Among genetic variants, only the PAI-1 4G/5G polymorphism was significantly associated with CTEPD (p = 0.001). Our study demonstrates that advanced age, comorbid diseases, elevated cardiac biomarkers, and genetic predisposition are associated with the development of CTEPD after acute PTE, while the PAI-1 4G/5G polymorphism may contribute to CTEPD susceptibility within a multifactorial context. Full article
(This article belongs to the Special Issue Coagulation Factors and Natural Anticoagulants in Health and Disease)
24 pages, 3369 KB  
Article
The Effects of Heparin Binding and Arg596 Mutations on the Conformation of Thrombin–Antithrombin Michaelis Complex, Revealed by Enhanced Sampling Molecular Dynamics Simulations
by Gábor Balogh and Zsuzsanna Bereczky
Int. J. Mol. Sci. 2025, 26(20), 9901; https://doi.org/10.3390/ijms26209901 - 11 Oct 2025
Cited by 1 | Viewed by 806
Abstract
The inactivation of thrombin by antithrombin is highly enhanced by the presence of heparin chains forming “bridges” between the two proteins. X-ray structures for such ternary complexes have been published, but the molecular background of the lower efficiency of smaller heparinoids on thrombin [...] Read more.
The inactivation of thrombin by antithrombin is highly enhanced by the presence of heparin chains forming “bridges” between the two proteins. X-ray structures for such ternary complexes have been published, but the molecular background of the lower efficiency of smaller heparinoids on thrombin inhibition remains poorly understood. Antithrombin-resistant prothrombin mutants (mutations affecting Arg596 in prothrombin) have been reported that cause severe thrombophilia. Our aim was to study the interactions in the antithrombin–thrombin Michaelis complex both in the presence and the absence of a heparinoid chain and in the presence of pentasaccharide by using molecular dynamics. We also intended to study the complexes of thrombin mutants as well as a known alternative antithrombin conformation at the “hinge” region built using docking. The binding between the proteins was investigated by Gaussian Accelerated Molecular Dynamics (GaMD). We compared the contribution of several amino acids at the binding “exosites” between AT and the wild type and mutant thrombins and between systems containing or not containing a heparinoid. In the docking-based simulations, several of the analyzed amino acid pairs no longer contributed to the interaction, suggesting that the open “hinge” conformation has limited biological relevance. We could identify multiple conformational types using clustering, revealing high flexibility in mutants and systems without heparinoid, probably indicating lower stability. We were also able to detect the allosteric effects of the ligands on the bound thrombin. In summary, we were able to obtain conformations using GaMD that can explain the better protein–protein interactions in the ternary complexes and the impaired AT binding of the thrombin Arg596 mutants at an atomic level. Full article
(This article belongs to the Special Issue Coagulation Factors and Natural Anticoagulants in Health and Disease)
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21 pages, 4048 KB  
Article
Antiangiogenic Activity of 6-O-Desulfated Modified Heparin: Suppression of Choroidal Neovascularization
by Alex Treiger Grupenmacher, Bianca Oliveira Augusto, Bruna Zancanelli Fetter, Juliana P. Rocha, Diego Lisboa Araujo, Vinicius Kniggendorf, Helena B. Nader, Caio Vinicius Saito Regatieri and Juliana L. Dreyfuss
Int. J. Mol. Sci. 2025, 26(16), 7673; https://doi.org/10.3390/ijms26167673 - 8 Aug 2025
Viewed by 1188
Abstract
Age-related macular degeneration (AMD) is a leading cause of irreversible blindness worldwide, primarily due to pathological choroidal neovascularization (CNV). Our study investigates a chemically modified heparin derivative as a novel strategy to selectively modulate angiogenic signaling, offering a reduced anticoagulant risk and preclinical [...] Read more.
Age-related macular degeneration (AMD) is a leading cause of irreversible blindness worldwide, primarily due to pathological choroidal neovascularization (CNV). Our study investigates a chemically modified heparin derivative as a novel strategy to selectively modulate angiogenic signaling, offering a reduced anticoagulant risk and preclinical support for AMD treatment. We explored the therapeutic potential of 6-O-desulfated heparin (Hep-6Od) as an antiangiogenic agent with diminished anticoagulant activity. Synthesized via selective 6-O-desulfation and characterized using nuclear magnetic resonance (NMR), Hep-6Od demonstrated safety in retinal pigment epithelial cells with no cytotoxic effects at various concentrations. In vitro, the compound significantly inhibited endothelial cell proliferation, migration, and capillary tube formation. Differential scanning fluorimetry (DSF) assays confirmed molecular interaction between Hep-6Od and fibroblast growth factor 2 (FGF-2), suggesting interference with pro-angiogenic signaling pathways. In vivo, a laser-induced CNV model in lean Zucker rats showed a dose-dependent reduction in neovascular lesion areas after an intravitreal Hep-6Od injection. Compared to unfractionated heparin, Hep-6Od exhibited reduced anticoagulant effects in PT and aPTT assays while maintaining robust antiangiogenic properties. These findings support Hep-6Od as a promising alternative to anti-vascular endothelial growth factor (VEGF) therapies for AMD treatment, potentially expanding current retinal vascular disease interventions. The results underscore its potential to transform AMD management, pending further clinical validation and awaiting confirmation in further studies. Full article
(This article belongs to the Special Issue Coagulation Factors and Natural Anticoagulants in Health and Disease)
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