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Researcher: C.D.MOHANA PRIYA
Keywords: Angiotensin
Multifactorial etiology
Mutation frequency
Nephrotic syndrome
Steroid resistant
University: Sri Ramachandra University
Completed Date: 20/02/2017
Abstract: Nephrotic Syndrome NS is a heterogeneous group of conditions with a multifactorial etiology Failure to respond to steroid treatment has an important ramification for the risk of developing progressive renal failure later in life Molecular studies performed in identifying mutations in NPHS1 NPHS2 candidate genes and ACE MDR1 as modifier genes involved in maintaining the structural integrity of the podocytes and renal pathophysiology functions Mutations in these genes are now being extensively studied to understand the association to steroid responsiveness in patients with NS Therefore it was thought that a systematic study within the context of a South Indian population could provide an understanding of the etiology of NS Towards this healthy subjects NS patients with and without resistance to steroid response were recruited and was screened for mutations by PCR Sanger sequencing NPHS1 showed 9 percent mutation frequency in SRNS patients all mutations and three single nucleotide polymorphism observed are novel In NPHS2 a mutational frequency of 18 percent was observed in SRNS patients of which 7 mutations are of novel findings Study on the associated pathway genes angiotensin converting enzyme and Multidrug Resistance Protein 1 gene polymorphism in NS did not show any significant difference between the three examined groups However interestingly the SNP G2677T A of MDR1 genotypes TT GT and GA showed a significant association in SRNS patients when compared with that of a SSNS and control group The importance of the mutations on the candidate genes and their association on the development of steroid resistance towards therapy in NS subjects are presented in the thesis newline
Pagination: 1-139
Appears in Departments:College of Biomedical Sciences

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02_certificate.pdf93.92 kBAdobe PDFView/Open
03_contents.pdf101.09 kBAdobe PDFView/Open
04_list of tables.pdf96.9 kBAdobe PDFView/Open
05_list of figures.pdf10.25 kBAdobe PDFView/Open
06_acknowledgement.pdf192.04 kBAdobe PDFView/Open
07_chapter1.pdf984.62 kBAdobe PDFView/Open
08_chapter2.pdf1.02 MBAdobe PDFView/Open
09_chapter3.pdf713.76 kBAdobe PDFView/Open
10_chapter4.pdf606.86 kBAdobe PDFView/Open
11_chapter5.pdf408.65 kBAdobe PDFView/Open
12_chapter6.pdf254.66 kBAdobe PDFView/Open
13_summary_conclusion.pdf116.65 kBAdobe PDFView/Open
14_appendix.pdf641.35 kBAdobe PDFView/Open
15_publications.pdf1.97 MBAdobe PDFView/Open

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