Investigation of Potential Genetic Mechanisms in Paroxysmal Nocturnal Hemoglobinuria
Project no. 29732 · Status: Kapanmış (Yayın bekleniyor) · 2023
Summary
<p>PNH (Paroxysmal Nocturnal Hemoglobinuria) is an ultra-rare stem cell disorder characterized by bone marrow failure, signs of non-immune intravascular hemolysis and a thrombosis clinic. PNH is a rare form of acquired hemolytic disorder characterized by episodes of intravascular hemolysis and hemoglobinuria in classic cases.</p><p><br></p><p>There are underlying molecular mechanisms in the emergence and course of many diseases. It is thought that the expression levels of the gene or genes that can be detected for PNH may be effective in the disease.</p><p><br></p><p>Our proposed study aims to better understand the underlying molecular mechanisms of PNH and to differentiate patients in this group according to whether they express common genes or not.</p><p><br></p><p>For this reason, we investigated the expression levels of DNMT3A, ASXL1, TET2, EZH2, RUNX1, PHF6, U2AF1, ATM genes responsible for a series of genomic events and GAPDH gene as a control in patients diagnosed with PNH admitted to Ege University Medical Faculty Hematology Department, In order to differentiate PNH disease more easily in the clinic and to reveal it as a biomarker in specific diagnosis, it is aimed to perform PCR analysis in these patients and to investigate the association of the expression levels of the genes mentioned with PNH.</p><p><br></p><p>These genes responsible for these genomic events have not been previously studied in PNH and have not been associated with the disease in the literature.</p>