Assessment of micro RNA level of patients diagnosed with tuberous sclerosis
2016
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Advisor: Prof. Dr. Akın İşcan
Abstract (EN)
Purpose: Tuberous sclerosis is a genetic disease characterized by hamartomas in multiple organ systems, with autosomal dominant passage. MicroRNAs are RNA molecules which are small, uncodable, consisting of 20-24 nucleotides, assuming regulator level at posttranscriptional level in gene expression. Oxidative stress is responsible for pathogenesis of many diseased, in particular, cancer. It is considered that oxidative stress and related DNA damage occurs in pathogenesis of genetically inherited diseases. Therefore, it is known that oxidative stress and related DNA damage and miRNAs play an important role in pathogenesis tuberous sclerosis. Our study aims to assess total oxidant-antioxidant level, oxidative stress index, DNA damage and microRNA levels of patients diagnosed with tuberous sclerosis. Material and Method: The study includes 30 tuberous sclerosis patients of ages in the range of 0-16 years consulting to Bezmialem Foundation University Medical Faculty, Pediatric Neurology polyclinic and as control group, 29 healthy children from the same age group. Blood samples that are taken are subjected to centrifuge to separate the serum. Total Antioxidant Level ( TAL ) and Total Oxidant Level ( TOL ) were measured from serum samples at wavelengths of 240 nm and 520 nm, respectively in plate the reader ( Thermo Scientifıc Multiscan FC, 2011-06, USA ) at Medical Biochemisty Department. Measured TAL and TOS values were used in Oxidative Stress lndex (OSI) calculation. Also, DNA damage determination was carried out from the samples by using Comet Assay Method. in the remaining serum samples, RNAs were converted to cDNA through purifıcation of total RNA by using RNA isolation kit Qiagen 1M and these were analyzed by using Real-Time PCR method. Obtained data was analyzed in SPSS software. Results: 1. TAL, TOL, and OSI values of patients with Tuberous Sclerosis Complex (TSC) diagnosis and the control group were compared. TAL measurements of patient group cases were found to be low at statistically signifıcant level (p=0.001; p<0.0 1 ), TOL measurements thereof were found to be high at statistically signifıcant level (p=0.001; p<0.0 1) and OSI measurements thereof were found to be high at statistically signifıcant level (p=0.001; p<0.01).
Author
Mine Yüksel
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Mine Yüksel (Medical Specialty Thesis). Assessment of micro RNA level of patients diagnosed with tuberous sclerosis, 2016, Bezmialem Vakıf University.
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