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Study of the association between SIRT1 single nucleotide gene variant and corticosteroid response in Egyptian pediatric patients with primary immune thrombocytopenia / By Omnia Attia Saad; Supervised By Prof. Dr. Nevine Mohamed Bahaa Eldin Fouad, Asst. Prof. Marwa Abd Elhady Abd Elsamad, Dr. Doaa Salah Mahmoud

By: Contributor(s): Material type: TextTextLanguage: English Summary language: English, Arabic Producer: 2023Description: 93 pages : illustrations ; 25 cm. + CDContent type:
  • text
Media type:
  • Unmediated
Carrier type:
  • volume
Other title:
  • فى الاطفال SIRT 1 دراسة ارتباط تعدد الجينى لجين المصرين المصابين بمرض نقص الصفائح الدموية المناعى ومدي الاستجابه للعلاج بالكورتيزون [Added title page title]
Subject(s): DDC classification:
  • 616.07
Available additional physical forms:
  • Issued also as CD
Dissertation note: Thesis (M.Sc.) -Cairo University, 2023. Summary: Background: Primary immune thrombocytopenia (ITP) is an autoimmune disorder characterized by decreased platelet count. While corticosteroids are a useful first- line therapy for ITP patients, their long-term effectiveness is limited, and the determinants of corticosteroid sensitivity in ITP patients remain largely unknown. Silent information regulator 1 (SIRT1) is a histone deacetylase of nicotinamide adenine dinucleotide (NAD+), which mainly exists in the nucleus, and is a member of a family of well-studied mammalian sirtuins. SIRT1 interacts with protein substrates in a variety of signaling pathways (such as Wnt and Notch), participates in the regulation of most of the body’s physiological functions, and plays a central regulatory role in cell proliferation, differentiation, senescence, apoptosis, and metabolism.it is also related to the anti-inflammatory effect of corticosteroids. Aim of the Work: The present work was done to study the prevalence and role of SIRT1 SNP rs12778366 in ITP susceptibility and corticosteroids sensitivity. Participants and Methods: Sixty patients with ITP as well as 60 age and sex- matched normal healthy controls were included. SIRT1 rs12778366 SNP was determined by allelic discrimination Taqman real-time PCR. Results: Our study revealed that SIRT1 rs12778366 variants among ITP patients were found to be the wild type T/T (81.7%), the heterozygous T/C (16.7%) and the homozygous C/C genotype (1.7%), while among the control group were the wild type T/T (90%), the heterozygous T/C (10%) and non were in the homozygous C/C with no statistically significant difference between the 2 groups (p ˃0.05) and that SIRT1 rs12778366 variants had no role as a risk factor of ITP susceptibility. Regarding sensitivity to corticosteroids, patients who were sensitive to steroids were found to be the wild type T/T (90%), the heterozygous T/C (10%) and non were in the homozygous C/C, while ITP patients who were resistant to corticosteroids, the wild type T/T (73.3%), the heterozygous T/C (23.3%) and the homozygous C/C (3.3%) with no significant difference between the 2 groups (p ˃0.05) and that SIRT1 rs12778366 variants had no impact on prognosis or treatment outcome. Conclusion: SIRT1 rs12778366 had no role in ITP susceptibility, disease severity or corticosteroid sensitivity.
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Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.M.Sc.2023.Om.S. (Browse shelf(Opens below)) Not for loan 01010110089583000

Thesis (M.Sc.) -Cairo University, 2023.

Bibliography: pages 76-90.

Background: Primary immune thrombocytopenia (ITP) is an autoimmune disorder
characterized by decreased platelet count. While corticosteroids are a useful first-
line therapy for ITP patients, their long-term effectiveness is limited, and the
determinants of corticosteroid sensitivity in ITP patients remain largely unknown.
Silent information regulator 1 (SIRT1) is a histone deacetylase of nicotinamide
adenine dinucleotide (NAD+), which mainly exists in the nucleus, and is a member
of a family of well-studied mammalian sirtuins. SIRT1 interacts with protein
substrates in a variety of signaling pathways (such as Wnt and Notch), participates
in the regulation of most of the body’s physiological functions, and plays a central
regulatory role in cell proliferation, differentiation, senescence, apoptosis, and
metabolism.it is also related to the anti-inflammatory effect of corticosteroids.
Aim of the Work: The present work was done to study the prevalence and role of
SIRT1 SNP rs12778366 in ITP susceptibility and corticosteroids sensitivity.
Participants and Methods: Sixty patients with ITP as well as 60 age and sex-
matched normal healthy controls were included. SIRT1 rs12778366 SNP was
determined by allelic discrimination Taqman real-time PCR.
Results: Our study revealed that SIRT1 rs12778366 variants among ITP patients
were found to be the wild type T/T (81.7%), the heterozygous T/C (16.7%) and the
homozygous C/C genotype (1.7%), while among the control group were the wild
type T/T (90%), the heterozygous T/C (10%) and non were in the homozygous C/C
with no statistically significant difference between the 2 groups (p ˃0.05) and that
SIRT1 rs12778366 variants had no role as a risk factor of ITP susceptibility.
Regarding sensitivity to corticosteroids, patients who were sensitive to steroids
were found to be the wild type T/T (90%), the heterozygous T/C (10%) and non
were in the homozygous C/C, while ITP patients who were resistant to
corticosteroids, the wild type T/T (73.3%), the heterozygous T/C (23.3%) and the
homozygous C/C (3.3%) with no significant difference between the 2 groups (p
˃0.05) and that SIRT1 rs12778366 variants had no impact on prognosis or
treatment outcome.
Conclusion: SIRT1 rs12778366 had no role in ITP susceptibility, disease severity
or corticosteroid sensitivity.

Issued also as CD

Text in English and abstract in Arabic & English.

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