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Study of the association of manganese superoxide dismutase gene polymorphism (rs4880) with diabetic retinopathy in a cohort of type II diabetic Egyptian patients / Nesrine Saleh Mohammed Mohammed ; Supervised Sarah Mahmoud Elkateb , Hanan Ali Ahmed Madani , Fatma Salah Eldin Abdelmoutagalli

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Nesrine Saleh Mohammed Mohammed , 2017Description: 146 P. : charts , facsimiles ; 25cmOther title:
  • دراسة العلاقة بين تعدد الأشكال الوراثية في جين إنزيم المنجنيزالمحول للأكسجين التفاعلي واعتلال الشبكية السكري في مرضي النوع الثاني من السكرفي مجموعة من المصريين [Added title page title]
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Dissertation note: Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology Summary: Background:In diabetic retinopathy (DR), the vascular endothelium is damaged due tooxidative stress and inflammation. Manganese superoxide dismutase (MnSOD) is one of the most important enzymesresponsible for the defense against oxidative damage in the mitochondria. A polymorphism in the second exon of theMnSOD gene at 16th amino acid (Ala16Val) in the mitochondrial targeting sequence(MTS) of the protein has been linked to several diseases including DR.This polymorphism affects the scavenger activity of the enzyme andgenerates high reactive oxygen species which could exacerbatethe development of DR. This study aims to investigate the association between Ala16Val MnSODgene polymorphism and the susceptibility to DR in type 2 diabetes patients. Subjects and Methods:150 unrelated patients with type 2 diabetes mellitus were enrolled: 100 patients with diabetic retinopathy (proliferative and non-proliferative) with and without Diabetic Macular Edema(DME) and 50 subjects control group with type 2 diabetes of duration of10yearsandmore who had no clinical signs of diabetic retinopathy.Ala16Val SNP ofMn SOD gene (rs4880) was detected by Taqman real time PCR. Results:No statistically significant difference was found in different genotypes frequency betweenthe DR (-) and DR (+) groups (p=0.3), norbetween the stages ofDR (P=0.245). But in the DR (+) group, the DME (+) group had a higher VV frequency than that of the DME (-) group (P=0.018).Diabetic duration, and insulin therapy were related to DR. Conclusion:Ala16Valpolymorphism ofMn SOD geneis associated with Diabetic Macular Edema (DME) in type 2 diabetes patients butthere is no association between this polymorphism and diabetic retinopathy
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Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.M.Sc.2017.Ne.S (Browse shelf(Opens below)) Not for loan 01010110074532000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.M.Sc.2017.Ne.S (Browse shelf(Opens below)) 74532.CD Not for loan 01020110074532000

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Background:In diabetic retinopathy (DR), the vascular endothelium is damaged due tooxidative stress and inflammation. Manganese superoxide dismutase (MnSOD) is one of the most important enzymesresponsible for the defense against oxidative damage in the mitochondria. A polymorphism in the second exon of theMnSOD gene at 16th amino acid (Ala16Val) in the mitochondrial targeting sequence(MTS) of the protein has been linked to several diseases including DR.This polymorphism affects the scavenger activity of the enzyme andgenerates high reactive oxygen species which could exacerbatethe development of DR. This study aims to investigate the association between Ala16Val MnSODgene polymorphism and the susceptibility to DR in type 2 diabetes patients. Subjects and Methods:150 unrelated patients with type 2 diabetes mellitus were enrolled: 100 patients with diabetic retinopathy (proliferative and non-proliferative) with and without Diabetic Macular Edema(DME) and 50 subjects control group with type 2 diabetes of duration of10yearsandmore who had no clinical signs of diabetic retinopathy.Ala16Val SNP ofMn SOD gene (rs4880) was detected by Taqman real time PCR. Results:No statistically significant difference was found in different genotypes frequency betweenthe DR (-) and DR (+) groups (p=0.3), norbetween the stages ofDR (P=0.245). But in the DR (+) group, the DME (+) group had a higher VV frequency than that of the DME (-) group (P=0.018).Diabetic duration, and insulin therapy were related to DR. Conclusion:Ala16Valpolymorphism ofMn SOD geneis associated with Diabetic Macular Edema (DME) in type 2 diabetes patients butthere is no association between this polymorphism and diabetic retinopathy

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