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Genetic Variants in the FGB and FGG Genes Mapping in the Beta and Gamma Nodules of the Fibrinogen Molecule in Congenital Quantitative Fibrinogen Disorders Associated with a Thrombotic Phenotype

1
National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, 03601 Martin, Slovakia
2
Department of Biomedical Sciences, Humanitas University, 20090 Pieve Emanuele, Italy
3
Humanitas Clinical and Research Center (IRCCS), 20089 Rozzano, Italy
4
Department of Biomedical and Clinical Sciences”L. Sacco”, Università degli Studi di Milano, 20157 Milan, Italy
5
Biomedical Center Martin, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, 03601 Martin, Slovakia
6
Department of Molecular Biology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, 03601 Martin, Slovakia
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(13), 4616; https://doi.org/10.3390/ijms21134616
Received: 27 April 2020 / Revised: 18 June 2020 / Accepted: 25 June 2020 / Published: 29 June 2020
(This article belongs to the Special Issue Advances in Biological Function of Fibrinogen and Fibrin)
Fibrinogen is a hexameric plasmatic glycoprotein composed of pairs of three chains (Aα, Bβ, and γ), which play an essential role in hemostasis. Conversion of fibrinogen to insoluble polymer fibrin gives structural stability, strength, and adhesive surfaces for growing blood clots. Equally important, the exposure of its non-substrate thrombin-binding sites after fibrin clot formation promotes antithrombotic properties. Fibrinogen and fibrin have a major role in multiple biological processes in addition to hemostasis and thrombosis, i.e., fibrinolysis (during which the fibrin clot is broken down), matrix physiology (by interacting with factor XIII, plasminogen, vitronectin, and fibronectin), wound healing, inflammation, infection, cell interaction, angiogenesis, tumour growth, and metastasis. Congenital fibrinogen deficiencies are rare bleeding disorders, characterized by extensive genetic heterogeneity in all the three genes: FGA, FGB, and FGG (enconding the Aα, Bβ, and γ chain, respectively). Depending on the type and site of mutations, congenital defects of fibrinogen can result in variable clinical manifestations, which range from asymptomatic conditions to the life-threatening bleeds or even thromboembolic events. In this manuscript, we will briefly review the main pathogenic mechanisms and risk factors leading to thrombosis, and we will specifically focus on molecular mechanisms associated with mutations in the C-terminal end of the beta and gamma chains, which are often responsible for cases of congenital afibrinogenemia and hypofibrinogenemia associated with thrombotic manifestations. View Full-Text
Keywords: fibrinogen; quantitative fibrinogen disorders; beta and gamma nodules; FGB gene; FGG gene; mutations associated with thrombosis fibrinogen; quantitative fibrinogen disorders; beta and gamma nodules; FGB gene; FGG gene; mutations associated with thrombosis
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Simurda, T.; Brunclikova, M.; Asselta, R.; Caccia, S.; Zolkova, J.; Kolkova, Z.; Loderer, D.; Skornova, I.; Hudecek, J.; Lasabova, Z.; Stasko, J.; Kubisz, P. Genetic Variants in the FGB and FGG Genes Mapping in the Beta and Gamma Nodules of the Fibrinogen Molecule in Congenital Quantitative Fibrinogen Disorders Associated with a Thrombotic Phenotype. Int. J. Mol. Sci. 2020, 21, 4616.

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