Endothelial nitric oxide synthase gene intron 4 variable number tandem repeat polymorphism in β-thalassemia major

Tantawy, Azza Abdel Gawad; Adly, Amira Abdel Moneam; Ismail, Eman Abdel Rahman; Aly, Shereen H.

doi:10.1097/mbc.0000000000000277

Cited by 6 publications

(4 citation statements)

References 58 publications

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“…3. 27-base pair VNTR in intron 4 (VNTR 4a/4b polymorphism) [26,27]: a functional study showed endothelial cells with 5 copies of the 27base pair VNTR (4b variant) not only have more small RNA than cells with 4 copies of the 27-base pair VNTR (4a variant) but also lower levels of NOS3 mRNA [19,28].…”

Section: Human Studiesmentioning

confidence: 99%

Endothelial Nitric Oxide synthase (eNOS) in Preeclampsia: An Update

2024

J Preg Child Health

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Preeclampsia (PE) is a common pregnancy-related hypertensive disorder and is a leading cause of maternal and perinatal morbidity and mortality. The incidence of PE and its associated health care costs have been increasing in the United States over the past three decades. Pregnancies complicated by PE put both the mother and child at increased risk for chronic illnesses such as cardiovascular disease, cerebrovascular disease, and cognitive impairment later in life. To date, there is no effective treatment for PE and the etiology of PE is largely unknown. While human epidemiological studies have established an association between various genetic factors and PE, a causative link between genes associated with PE and PE development has been difficult to establish. Human studies have shown that variants in eNOS (endothelial nitric oxide synthase, also known as NOS3) gene are associated with PE, and animal experimental studies have provided evidence to show the potential functional connection between the eNOS gene and PE. Here we review several studies that investigated the role of eNOS in PE, as well as studies that described how manipulating the eNOS/NO pathway could aid in disease intervention.

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Section: Human Studiesmentioning

confidence: 99%

Endothelial Nitric Oxide synthase (eNOS) in Preeclampsia: An Update

2024

J Preg Child Health

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“…All cells in the body continuously produce cystatin C and its production is unaffected by changes in age, sex, gender, or muscle mass. Cystatin C is a reliable and early marker of glomerular dysfunction in the pediatric 22,36,38 A low-molecular-weight protein called urinary β2 microglobulin (u β2MG) is freely filtered by glomeruli, reabsorbed by renal tubules, and then eliminated. Due to its continual production, both are thought to be a more reliable endogenous measure of early glomerular filtration rate (GFR) affection than creatinine.…”

Section: Cystatin C and Uβ2mgmentioning

confidence: 99%

Markers of Renal Complications in Beta Thalassemia Patients with Iron Overload Receiving Chelation Agent Therapy: A Systematic Review

Romadhon¹,

Ashariati²,

Bintoro³

et al. 2022

JBM

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The emerging renal complications in beta-thalassemia patients have raised the global exchange of views. Despite better survival due to blood transfusion and iron chelation therapy, the previously unrecognized renal complication remain a burden of disease affecting this population -the primary concern on how iron overload and chelation therapy correlated with renal impairment is still controversial. Early detection and diagnosis is crucial in preventing further kidney damage. Therefore, a systematic review was performed to identify markers of kidney complications in beta thalassemia patients with iron overload receiving chelation therapy. Methods: Searches of PubMed, Scopus, Science Direct, and Web of Science were conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) to identify studies of literature reporting renal outcome in β-TM patients with iron overload and receiving chelation therapy. The eligible 17 studies were obtained. Results: uNGAL/NGAL, uNAG/NAG, uKIM-1 are markers that can be used as predictor of renal tubular damage in early renal complications, while Cystatin C and uβ2MG showed further damage at the glomerular level. Discussion and Conclusion:The renal complication in beta-thalassemia patients with iron overload receiving chelating agent therapy may progress to kidney disease. Early detection using accurate biological markers is a substantial issue that deserves further evaluation to determine prevention and management.

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“…4. Decreased nitric oxide (NO), secondary to hemolysis caused by the decreased level of arginine leads to pulmonary vasoconstriction and subsequently results in chronic pulmonary thromboembolism [12,20].…”

Section: Pathophysiologymentioning

confidence: 99%

Thromboembolism in Beta-Thalassemia Disease

Natesirinilkul¹

2020

Beta Thalassemia

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Thalassemia disease is a common inherited hemolytic anemia frequently found in several parts of the world, especially in the Mediterranean and some Asian countries. Besides the complications of secondary hemochromatosis from regular red blood cell (RBC) transfusion and increased gastrointestinal absorption of iron, thromboembolism (TE) is one of the common long-term complications of beta-thalassemia disease, particularly in patients with non-transfusion-dependent thalassemia (NTDT), which is commonly seen after the second decade of life. The risk factors of TE in beta-thalassemia disease including exposure of phosphatidylserine of abnormal RBCs, increase of platelet activation and aggregation, elevation of endothelial microparticles and increased endothelial activation, decreased nitric oxide (NO) secondary to hemolysis, rise of platelet count and nucleated RBCs after splenectomy, organ dysfunction caused by hemochromatosis, and thrombophilia such as natural anticoagulant deficiencies leading to hypercoagulable state. The understanding of the pathophysiology would result in effective prevention of this complication of beta-thalassemia disease.

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Endothelial nitric oxide synthase gene intron 4 variable number tandem repeat polymorphism in β-thalassemia major

Cited by 6 publications

References 58 publications

Endothelial Nitric Oxide synthase (eNOS) in Preeclampsia: An Update

Endothelial Nitric Oxide synthase (eNOS) in Preeclampsia: An Update

Markers of Renal Complications in Beta Thalassemia Patients with Iron Overload Receiving Chelation Agent Therapy: A Systematic Review

Thromboembolism in Beta-Thalassemia Disease

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