Alpha synuclein (α-Syn) is a neuronal protein encoded by the SNCA gene and is involved in the dev... more Alpha synuclein (α-Syn) is a neuronal protein encoded by the SNCA gene and is involved in the development of Parkinson’s disease (PD). The objective of this study was to examine in silico the functional implications of non-synonymous single nucleotide polymorphisms (nsSNPs) in the SNCA gene. We used a range of computational algorithms such as sequence conservation, structural analysis, physicochemical properties, and machine learning. The sequence of the SNCA gene was analyzed, resulting in the mapping of 42,272 SNPs that are classified into different functional categories. A total of 177 nsSNPs were identified within the coding region; there were 20 variants that may influence the α-Syn protein structure and function. This identification was made by employing different analytical tools including SIFT, PolyPhen2, Mut-pred, SNAP2, PANTHER, PhD-SNP, SNP&Go, MUpro, Cosurf, I-Mut, and HOPE. Three mutations, V82A, K80E, and E46K, were selected for further examinations due to their spatia...
Background and Objectives. The enzyme methionine synthase reductase is involved in cellular methy... more Background and Objectives. The enzyme methionine synthase reductase is involved in cellular methylation reactions, DNA synthesis, and epigenetic processes. It is encoded by the MTRR gene, which garnered a lot of attention in current medical genetics research. This study was conducted to study the association between MTRR (A66G) polymorphism and the risk of developing acute lymphoblastic leukemia among Sudanese patients. Materials and Methods. This is a case-control study in which 150 patients with acute lymphoblastic leukemia (ALL) and 150 healthy participants as a control group were enrolled. DNA was extracted and analyzed for the MTRR (A66G) polymorphism using the real-time polymerase chain reaction. Results. Based on flow cytometry results, B-ALL was more common (79%) than T-ALL (21%). The comparison of hematological parameters in acute lymphoblastic leukemia subtypes showed a statistically significant high mean total white blood count (P=0.000) and mean blast percentage (P=0.050...
Background: Thrombosis plays a crucial role in the morbidity and mortality of coronavirus disease... more Background: Thrombosis plays a crucial role in the morbidity and mortality of coronavirus disease-19 (COVID-19). About one-third of COVID-19 patients experience a thrombotic event, most commonly pulmonary embolism. Based on published data, the mechanism of thrombosis in COVID-19 patients seems to be multi-factorial. Methods: In this article, we reviewed the publsihed data concerning with thrombosis in COVID-19 and summarized the predisposing factors and the mechanisms behind COVID-19 related thrombosis. Results: Inflammatory response to SARS-CoV-2 and the consequent hyperviscosity thought to cause endothelial damage and initiate coagulation. Furthermore, inflammation promotes platelet activation and exerts a pathogenic effect on endothelial cells. The presence of anticardiolipin and anti–β2-glycoprotein antibodies in some patients with COVID-19 suggests that SARS-CoV-2, like many other viral infections, induces the formation of antiphospholipid antibodies, which provoke hypercoagulability. Thrombophilic mutations, mainly factor V Leiden and prothrombin G20201A mutations, can be a contributing factor in the development of thrombosis in COVID-19 patients, and they are associated with increased disease severity and pulmonary embolism. However, the research concerning with the association of thrombophilic mutations with COVID-19 related thrombosis showed conflict results. Conclusion: The mechanism of thrombosis in COVID-19 patients seems to be multifactorial. Endothelial damage, antiphospholipid antibodies, inflammation, hyperviscosity, and thrombophilic mutations are the main factors that predispose COVID-19 patients to. thrombosis.
British Journal of Medicine and Medical Research, 2015
Background: Sickling test and haemoglobin solubility test are screening techniques used to detect... more Background: Sickling test and haemoglobin solubility test are screening techniques used to detect the presence of haemoglobin S, but can't identify exact phenotype or genotype. Haemoglobin electrophoresis can determine the phenotype of sickle cell disease but it cannot be performed on infants aged less than 6 months because of the presence of hemoglobin F as the predominant hemoglobin before this age and thus it is not suitable for prenatal and neonatal screening. This study aimed to compare PCR-based single tube genotyping of sickle cell disease with routine alkaline haemoglobin electrophoresis.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 2013
Anemia is a common feature among patients with chronic renal failure (CRF). Low activity of the e... more Anemia is a common feature among patients with chronic renal failure (CRF). Low activity of the erythrocyte enzyme glucose-6-phosphate dehydrogenase (G6PD), which plays a major role in protecting red blood cells against oxidative agents, has been described as one of the contributing factors to anemia in patients with CRF treated with hemodialysis (HD). In this study, blood samples were randomly collected from 65 patients on HD and investigated for G6PD deficiency using the methemoglobin reduction test. The hemoglobin (Hb) concentration, packed cell volume (PCV), red blood cells (RBCs) count and reticulocyte count were determined in all the samples. Our results showed that 39 of 65 patients (60%) on HD had low G6PD activity and 26 (40%) patients had normal activity; 59% of the patients with low G6PD activity were males. The mean Hb, PCV and RBCs counts were lower in patients with low G6PD activity than in those with normal G6PD activity, but the difference was not statistically signi...
Several studies have reported the contribution of VDR Fok-I polymorphisms in various types of can... more Several studies have reported the contribution of VDR Fok-I polymorphisms in various types of cancer. The aim of this study was to investigate the possible correlation between vitamin D receptor (VDR) gene Fok-I polymorphism and chronic myeloid leukemia. A total of 77 subjects were enrolled in this study, 40 with CML and 37 healthy volunteers (control group). Venous blood sample was collected from each subject in ethylene diamine tetra acetic acid. Genomic DNA was extracted by salting out method and analyzed for detection of VDR Fok-I polymorphism by polymerase chain reactionrestriction fragment length polymorphism. The result showed that the genotype F/F was the most frequent (85%) in patients with CML, followed by the genotypes F/f (10%) and f/f (5%) consequently. Similarly in the control group the genotype F/F also was the most frequent (86.5%) followed by the genotype F/f (13.5%); no f/f genotype was detected among the control group. There was statistically significant correlati...
Background: It has been hypothesized that VDR polymorphisms may influence both the risk of cancer... more Background: It has been hypothesized that VDR polymorphisms may influence both the risk of cancer occurrence and prognosis. Polycythemia Vera (PV) is one of a related group of blood cancers known as “MyeloProliferative Neoplasm's” (MPNs) in which cells in the bone marrow that produce the blood cells develop and function abnormally. This study is conducted to explore the association of vitamin-Dreceptor (VDR) Polymorphism at the FOK1 site with the occurrence of polycythemia vera. Materials and methods: A total of 72 subjects were enrolled in this study, 35 with Polycythemia Vera and 37 healthy controls, Genomic DNA was extracted from patients’ blood samples by salting out method, and analyzed for determination of VDR start codon polymorphismFokI using PCR-RFLP (restriction fragment lengths polymorphisms). Results: The results showed that F/F genotype was the most frequent 23(65.7%) among patients with Polycythemia Vera, followed by the genotype F/f 11 (31.4%) and f/f 1 (2.9%) con...
Background: Chronic myeloid leukemia (CML) is one of the myeloproliferative disorders results fro... more Background: Chronic myeloid leukemia (CML) is one of the myeloproliferative disorders results from an acquired genetic defect characterized by expansion of myeloid cell mass replacing normal haemopoiesis, it was the first malignant disorder reported in association with a chromosomal aberration, the Philadelphia chromosome (Ph). CML can also change into a fastgrowing acute Leukemia that invades almost any organ in the body. JAK2V617F mutation have been reported in patients with myeloproleferative disorders including polycythaemia vera , essential thrombocythaemia and myelofibrosis with different frequency; recently, some authors have reported the coexistence of JAK2V617F and BCR/ABL+ in CML patients expressing the p210 BCR–ABL oncoprotein. The aim of this study was to determine the frequency of JAK2V617F mutation among Sudanese patients with Philadelphia positive CML. Materials and methods: A total of 49 Sudanese CML patients were enrolled in this study, three milliliter (ml) of veno...
Background: The enzyme ‘Angiotensin-Converting Enzyme (ACE)’ modulates the fibrinolytic balance b... more Background: The enzyme ‘Angiotensin-Converting Enzyme (ACE)’ modulates the fibrinolytic balance by converting angiotensin I into angiotensin II, which increase the activity of plasminogen activator inhibitor-1 (PAI-1). Besides, it degrades bradykinin, which an important mediator of the tissue-type plasminogen activator (t-PA). Thus, decreases fibrinolysis and may result in increased thrombotic risk. An insertion/deletion (I/D) polymorphism in the ACE gene has been identified and correlated with the enzyme serum levels. Studies concerning the association of this polymorphism and the risk of cardiovascular diseases in different populations showed inconsistent results. Objective: This study aimed to investigate the association between ACE I/D polymorphism and the risk of myocardial infarction among the Sudanese population. Materials and methods: This is a case-control study, in which blood samples were collected from a total of 100 Sudanese subjects, 50 patients with myocardial infarct...
Background: Administration of recombinant human erythropoietin is an important factor in successf... more Background: Administration of recombinant human erythropoietin is an important factor in successful treatment of anaemia in haemodialysis patients. The current study aimed to evaluate haematological parameters in patients with chronic renal failure who received erythropoietin therapy. Materials and methods: This study is a cross-sectional study targeting 148 Sudanese haemodialysis patients. They were classified into three groups based on erythropoietin treatment, group1 included patients who received erythropoietin regularly, group2 included those received erythropoietin irregularly, and group3 included those who didn't received erythropoietin. Blood samples were collected from all patients, haematological parameters were measured using automated haematological analyzer (Sysmex kX-2IN), and data analyzed using statistical package for social sciences (SPSS). Results: All patients were anemic with significant decreased in hemoglobin concentration (Hb), packed cells volume (PCV) an...
Alpha synuclein (α-Syn) is a neuronal protein encoded by the SNCA gene and is involved in the dev... more Alpha synuclein (α-Syn) is a neuronal protein encoded by the SNCA gene and is involved in the development of Parkinson’s disease (PD). The objective of this study was to examine in silico the functional implications of non-synonymous single nucleotide polymorphisms (nsSNPs) in the SNCA gene. We used a range of computational algorithms such as sequence conservation, structural analysis, physicochemical properties, and machine learning. The sequence of the SNCA gene was analyzed, resulting in the mapping of 42,272 SNPs that are classified into different functional categories. A total of 177 nsSNPs were identified within the coding region; there were 20 variants that may influence the α-Syn protein structure and function. This identification was made by employing different analytical tools including SIFT, PolyPhen2, Mut-pred, SNAP2, PANTHER, PhD-SNP, SNP&Go, MUpro, Cosurf, I-Mut, and HOPE. Three mutations, V82A, K80E, and E46K, were selected for further examinations due to their spatia...
Background and Objectives. The enzyme methionine synthase reductase is involved in cellular methy... more Background and Objectives. The enzyme methionine synthase reductase is involved in cellular methylation reactions, DNA synthesis, and epigenetic processes. It is encoded by the MTRR gene, which garnered a lot of attention in current medical genetics research. This study was conducted to study the association between MTRR (A66G) polymorphism and the risk of developing acute lymphoblastic leukemia among Sudanese patients. Materials and Methods. This is a case-control study in which 150 patients with acute lymphoblastic leukemia (ALL) and 150 healthy participants as a control group were enrolled. DNA was extracted and analyzed for the MTRR (A66G) polymorphism using the real-time polymerase chain reaction. Results. Based on flow cytometry results, B-ALL was more common (79%) than T-ALL (21%). The comparison of hematological parameters in acute lymphoblastic leukemia subtypes showed a statistically significant high mean total white blood count (P=0.000) and mean blast percentage (P=0.050...
Background: Thrombosis plays a crucial role in the morbidity and mortality of coronavirus disease... more Background: Thrombosis plays a crucial role in the morbidity and mortality of coronavirus disease-19 (COVID-19). About one-third of COVID-19 patients experience a thrombotic event, most commonly pulmonary embolism. Based on published data, the mechanism of thrombosis in COVID-19 patients seems to be multi-factorial. Methods: In this article, we reviewed the publsihed data concerning with thrombosis in COVID-19 and summarized the predisposing factors and the mechanisms behind COVID-19 related thrombosis. Results: Inflammatory response to SARS-CoV-2 and the consequent hyperviscosity thought to cause endothelial damage and initiate coagulation. Furthermore, inflammation promotes platelet activation and exerts a pathogenic effect on endothelial cells. The presence of anticardiolipin and anti–β2-glycoprotein antibodies in some patients with COVID-19 suggests that SARS-CoV-2, like many other viral infections, induces the formation of antiphospholipid antibodies, which provoke hypercoagulability. Thrombophilic mutations, mainly factor V Leiden and prothrombin G20201A mutations, can be a contributing factor in the development of thrombosis in COVID-19 patients, and they are associated with increased disease severity and pulmonary embolism. However, the research concerning with the association of thrombophilic mutations with COVID-19 related thrombosis showed conflict results. Conclusion: The mechanism of thrombosis in COVID-19 patients seems to be multifactorial. Endothelial damage, antiphospholipid antibodies, inflammation, hyperviscosity, and thrombophilic mutations are the main factors that predispose COVID-19 patients to. thrombosis.
British Journal of Medicine and Medical Research, 2015
Background: Sickling test and haemoglobin solubility test are screening techniques used to detect... more Background: Sickling test and haemoglobin solubility test are screening techniques used to detect the presence of haemoglobin S, but can't identify exact phenotype or genotype. Haemoglobin electrophoresis can determine the phenotype of sickle cell disease but it cannot be performed on infants aged less than 6 months because of the presence of hemoglobin F as the predominant hemoglobin before this age and thus it is not suitable for prenatal and neonatal screening. This study aimed to compare PCR-based single tube genotyping of sickle cell disease with routine alkaline haemoglobin electrophoresis.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 2013
Anemia is a common feature among patients with chronic renal failure (CRF). Low activity of the e... more Anemia is a common feature among patients with chronic renal failure (CRF). Low activity of the erythrocyte enzyme glucose-6-phosphate dehydrogenase (G6PD), which plays a major role in protecting red blood cells against oxidative agents, has been described as one of the contributing factors to anemia in patients with CRF treated with hemodialysis (HD). In this study, blood samples were randomly collected from 65 patients on HD and investigated for G6PD deficiency using the methemoglobin reduction test. The hemoglobin (Hb) concentration, packed cell volume (PCV), red blood cells (RBCs) count and reticulocyte count were determined in all the samples. Our results showed that 39 of 65 patients (60%) on HD had low G6PD activity and 26 (40%) patients had normal activity; 59% of the patients with low G6PD activity were males. The mean Hb, PCV and RBCs counts were lower in patients with low G6PD activity than in those with normal G6PD activity, but the difference was not statistically signi...
Several studies have reported the contribution of VDR Fok-I polymorphisms in various types of can... more Several studies have reported the contribution of VDR Fok-I polymorphisms in various types of cancer. The aim of this study was to investigate the possible correlation between vitamin D receptor (VDR) gene Fok-I polymorphism and chronic myeloid leukemia. A total of 77 subjects were enrolled in this study, 40 with CML and 37 healthy volunteers (control group). Venous blood sample was collected from each subject in ethylene diamine tetra acetic acid. Genomic DNA was extracted by salting out method and analyzed for detection of VDR Fok-I polymorphism by polymerase chain reactionrestriction fragment length polymorphism. The result showed that the genotype F/F was the most frequent (85%) in patients with CML, followed by the genotypes F/f (10%) and f/f (5%) consequently. Similarly in the control group the genotype F/F also was the most frequent (86.5%) followed by the genotype F/f (13.5%); no f/f genotype was detected among the control group. There was statistically significant correlati...
Background: It has been hypothesized that VDR polymorphisms may influence both the risk of cancer... more Background: It has been hypothesized that VDR polymorphisms may influence both the risk of cancer occurrence and prognosis. Polycythemia Vera (PV) is one of a related group of blood cancers known as “MyeloProliferative Neoplasm's” (MPNs) in which cells in the bone marrow that produce the blood cells develop and function abnormally. This study is conducted to explore the association of vitamin-Dreceptor (VDR) Polymorphism at the FOK1 site with the occurrence of polycythemia vera. Materials and methods: A total of 72 subjects were enrolled in this study, 35 with Polycythemia Vera and 37 healthy controls, Genomic DNA was extracted from patients’ blood samples by salting out method, and analyzed for determination of VDR start codon polymorphismFokI using PCR-RFLP (restriction fragment lengths polymorphisms). Results: The results showed that F/F genotype was the most frequent 23(65.7%) among patients with Polycythemia Vera, followed by the genotype F/f 11 (31.4%) and f/f 1 (2.9%) con...
Background: Chronic myeloid leukemia (CML) is one of the myeloproliferative disorders results fro... more Background: Chronic myeloid leukemia (CML) is one of the myeloproliferative disorders results from an acquired genetic defect characterized by expansion of myeloid cell mass replacing normal haemopoiesis, it was the first malignant disorder reported in association with a chromosomal aberration, the Philadelphia chromosome (Ph). CML can also change into a fastgrowing acute Leukemia that invades almost any organ in the body. JAK2V617F mutation have been reported in patients with myeloproleferative disorders including polycythaemia vera , essential thrombocythaemia and myelofibrosis with different frequency; recently, some authors have reported the coexistence of JAK2V617F and BCR/ABL+ in CML patients expressing the p210 BCR–ABL oncoprotein. The aim of this study was to determine the frequency of JAK2V617F mutation among Sudanese patients with Philadelphia positive CML. Materials and methods: A total of 49 Sudanese CML patients were enrolled in this study, three milliliter (ml) of veno...
Background: The enzyme ‘Angiotensin-Converting Enzyme (ACE)’ modulates the fibrinolytic balance b... more Background: The enzyme ‘Angiotensin-Converting Enzyme (ACE)’ modulates the fibrinolytic balance by converting angiotensin I into angiotensin II, which increase the activity of plasminogen activator inhibitor-1 (PAI-1). Besides, it degrades bradykinin, which an important mediator of the tissue-type plasminogen activator (t-PA). Thus, decreases fibrinolysis and may result in increased thrombotic risk. An insertion/deletion (I/D) polymorphism in the ACE gene has been identified and correlated with the enzyme serum levels. Studies concerning the association of this polymorphism and the risk of cardiovascular diseases in different populations showed inconsistent results. Objective: This study aimed to investigate the association between ACE I/D polymorphism and the risk of myocardial infarction among the Sudanese population. Materials and methods: This is a case-control study, in which blood samples were collected from a total of 100 Sudanese subjects, 50 patients with myocardial infarct...
Background: Administration of recombinant human erythropoietin is an important factor in successf... more Background: Administration of recombinant human erythropoietin is an important factor in successful treatment of anaemia in haemodialysis patients. The current study aimed to evaluate haematological parameters in patients with chronic renal failure who received erythropoietin therapy. Materials and methods: This study is a cross-sectional study targeting 148 Sudanese haemodialysis patients. They were classified into three groups based on erythropoietin treatment, group1 included patients who received erythropoietin regularly, group2 included those received erythropoietin irregularly, and group3 included those who didn't received erythropoietin. Blood samples were collected from all patients, haematological parameters were measured using automated haematological analyzer (Sysmex kX-2IN), and data analyzed using statistical package for social sciences (SPSS). Results: All patients were anemic with significant decreased in hemoglobin concentration (Hb), packed cells volume (PCV) an...
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