Association of G20210A Prothrombin Gene Mutation and Cerebral Ischemic Stroke in Young Patients

Poudel, Sujan; Zeb, Mehwish; Kondapaneni, Varshitha; Gutlapalli, Sai Dheeraj; Choudhari, Jinal; Sodiya, Olusegun T; Toulassi, Ijeoma A; Cancarevic, Ivan

doi:10.7759/cureus.11984

Cited by 8 publications

(9 citation statements)

References 34 publications

(73 reference statements)

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“…These modifications include removing the pre/pro peptide, which is 3 amino acids long, adding three N-glycosylations at positions 78, 100, and 373, and changing the first 10 residues of glutamic acid (Glu) tocarboxy glutamic acid (Gla). [16,17] Glycans at position 373 boost the protein's thermodynamic stability and provide proteolysis protection without compromising thrombin's enzymatic activity. [18] As a result, the severe bleeding disorder is linked to the mutations Glu7 Lys in prothrombin Nijmegen and Glu29 Gly in prothrombin Shanghai.…”

Section: Discussionmentioning

confidence: 99%

Prothrombin Gene Polymorphism (G20210A) among Sudanese Patients with Intracerebral Hemorrhage, Khartoum State, 2022

Hasssan

Algader

Abdallah

et al. 2022

ijmsci

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Background Intracranial hemorrhage is the third most frequent cause of cerebrovascular disease, also known as cerebral bleed, intraparenchymal bleed and hemorrhagic stroke. This study was designed to detect the possible present of factor II polymorphism (G20210A) among Sudanese patients with Intercereberal hemorrhage. Material and method This study was cross sectional hospital-based study,conducted at the research laboratory of the national center of neurological sciences (NCNS), Khartoum, Sudan during the period June 2022 to August 2022.It included all patients attended with intracerebral hemorrhage, demographic data ( age , gender, associated disease ). DNA extraction was done from blood of all patients and control.PCR for factor prothrombin gene was done and thus Sanger sequencing. Results: The PCR results showed; 100% positive forfactor II gene. And sequencing result showed base bare exchange in factor II gene G to A (G20210A)polymorphism . Conclusion Factor II gene polymorphism (G20210A) was detected and might be association with Intercereberal hemorrhage among Sudanese patients

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Section: Discussionmentioning

confidence: 99%

Prothrombin Gene Polymorphism (G20210A) among Sudanese Patients with Intracerebral Hemorrhage, Khartoum State, 2022

Hasssan

Algader

Abdallah

et al. 2022

ijmsci

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“…Prothrombin, also known as factor II, is thrombin's precursor, leading to fibrin and thrombus formation in the coagulation cascade. After factor V mutation, prothrombin gene mutation is the second most common congenital inherited thrombophilia [ 1 , 2 ]. Prothrombin gene mutation arises when the gene responsible for making prothrombin is defective.…”

Section: Introductionmentioning

confidence: 99%

“…Prothrombin gene mutation arises when the gene responsible for making prothrombin is defective. For example, single-point mutations in the gene coding for prothrombin (factor II: A20210) will increase the risk of thromboembolism, predominantly venous rather than arterial [ 1 , 3 , 4 ]. A stroke is an abrupt onset of neurological deterioration by manifestations of deficits, and several risk factors are associated with the development of arterial stroke, including prothrombin gene mutation [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

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Internal Carotid Artery Dissection With Thrombosis in a Child With Prothrombin Gene Mutation

Oboli¹,

Poudel²,

Waseem³

2023

Cureus

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Prothrombin gene mutation (prothrombin thrombophilia) is an inherited disorder that increases the risk of venous thrombosis. However, limited data exist on the risk of arterial stroke in an at-risk population. Several meta-analyses report slightly increased risk in specific populations. We report a 10-year-old Hispanic girl who presented to the emergency department with a seizure. This seizure occurred five days after she tripped and fell without any initial associated symptoms. She had left-sided hemiparesis on physical examination after the seizure. Imaging revealed internal carotid artery (ICA) dissection with thrombus, right caudate nucleus and putamen infarcts, and ischemic penumbra. She subsequently had an endovascular thrombectomy of the right ICA with reperfusion. Genetic testing showed a prothrombin gene mutation (G20210A). Prothrombin gene mutation was the most likely explanation for her stroke in the absence of a significant risk factor for arterial thrombosis or an underlying hypercoagulable disorder. Further investigations are required to determine the risks and evaluate the correlation between prothrombin gene mutation and ischemic stroke in children.

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“…Vessel wall trauma and inflammation can be the causes of endothelium injury [ 5 ]; patients’ immobilization can decrease blood flow rate; both genetic and acquired conditions are able to induce alteration of blood composition [ 6 ]. Among genetic conditions, the most important are the presence of Factor V Leiden [ 7 ], mutation of the prothrombin gene [ 8 ], deficiencies of antithrombin, protein C and protein S [ 9 ], high homocysteine, fibrinogen and plasminogen activator inhibitor concentration [ 10 , 11 , 12 ], and alteration of the fibrinolytic system [ 13 ]. Pathologies, such as cancer, which alter the hemostatic system by acting on mechanism controlling thrombin formation and activity inducing thrombotic events, are examples of acquired situations able to modify blood composition [ 14 , 15 , 16 ] inducing a hypercoagulability state whose pathological consequence can be Venous Thromboembolism (VTE).…”

Section: Introductionmentioning

confidence: 99%

Bioactive Natural Compounds with Antiplatelet and Anticoagulant Activity and Their Potential Role in the Treatment of Thrombotic Disorders

Lamponi

2021

Life

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Natural anticoagulant drugs can be obtained from plants, rich in secondary bioactive metabolites which, in addition to being effective antioxidants, also possess anticoagulant and antiplatelet properties and, for this reason, can be excellent candidates for the treatment of thrombotic diseases. This review reports an overview of the hemostatic process and thrombotic disorders together with data on plants, more and less common from around the world, containing bioactive compounds characterized by antiplatelet and anticoagulant activity. The reported literature was obtained from Medline, PubMed, Elsevier, Web of Science, Google Scholar considering only articles in the English language, published in peer-reviewed journals. The number of citations of the articles and the impact factor of the journals were other parameters used to select the scientific papers to be included in the review. The analysis of the literature data selected demonstrates that many plants’ bioactive compounds show antiplatelet and anticoagulant activity that make them potential candidates to be used as new natural compounds able to interfere with both primary and secondary hemostasis. Moreover, they could be used together with anticoagulants currently administered in clinical practice to increase their efficacy and to reduce complications in the treatment of thrombotic disorders.

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Association of G20210A Prothrombin Gene Mutation and Cerebral Ischemic Stroke in Young Patients

Cited by 8 publications

References 34 publications

Prothrombin Gene Polymorphism (G20210A) among Sudanese Patients with Intracerebral Hemorrhage, Khartoum State, 2022

Prothrombin Gene Polymorphism (G20210A) among Sudanese Patients with Intracerebral Hemorrhage, Khartoum State, 2022

Internal Carotid Artery Dissection With Thrombosis in a Child With Prothrombin Gene Mutation

Bioactive Natural Compounds with Antiplatelet and Anticoagulant Activity and Their Potential Role in the Treatment of Thrombotic Disorders

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