The evaluation of accusation paraoxonase1 enzyme activity and its (-108, -126) polymorphisms in diabetic patients

Background and aims: Paraoxonase1 (PON1) is a liver-derived glycoprotein that is secreted into circulation. Among individuals in a population, PON1 activity varies widely. Most of this variation can be explained by polymorphisms in the coding region (Q192R) and the regulatory region (T-108C). Q192R has been more widely studied. Many studies (but not all) indicated that PON1 activity decreased in diabetes. In this study, it was investigated serum PON1 activity and its association with promoter -108 C/T and -126C/G polymorphisms in diabetic patients and non-diabetic subjects. Methods: In this cross sectional study, spectrophotometry technique was used to define PON1 activity and HRM(High resolution melt)- Real time PCR technique was used to define -108 and -126 polymorphisms distribution in 96 diabetic patients and 104 non diabetic subjects. Results: Paraoxonase1 activity in both two groups was not different (P=0.67). Also, significant difference was not found in type and abundance of -108 polymorphism in groups (P=0.277). It was found significant difference in type and abundance of -126 polymorphism distribution in diabetic and non-diabetic patients (P=0.000). Conclusion: The results showed that PON1 activity is not different between people with type 2 diabetes and non-diabetic subjects. -108 polymorphism distributions were the same in groups. Therefore, it can be considered a reason for similar enzyme activity. In spite of similar enzyme activity, significant difference was found between groups in -126 polymorphism. Therefore, it may be related to genetic susceptibility to type 2 diabetes

Mutations of Dual Oxidase 2 (DUOX2) Gene among patients with Permanent and Transient Congenital Hypothyroidism

Objective: The prevalence of congenital hypothyroidism (CH) is high in Isfahan, Iran. In addition, it has different etiologies compared with other countries. The rate of parental consanguinity is also high in the city. Moreover, DUOX2 gene is effective in transient CH and permanent CH due to dyshormonogenesis. Therefore, the aim of this research was to investigate the mutations of DUOX2 gene in patients with transient CH and permanent CH due to dyshormonogenesis. Methodology: In this descriptive, prospective study, patients diagnosed with transient and permanent CH due to dyshormonogenesis during CH screening program were selected. Venous blood samples were obtained to determine the 3 mutations (Q36H, R376W, and D506N) of DUOX2 gene using polymerase chain reaction (PCR) method by specific primers and complementary methods such as restriction fragment length polymorphism (RFLP) and singlestrand conformation polymorphism (SSCP). Results: In this study, 25 patients with transient CH and 33 subjects with permanent CH due to dyshormonogenesis were studied. In addition, 30 children were studied as the control group. We did not find any mutations of the 3 mentioned mutations of DUOX2 gene. Conclusion: Considering the findings of the current study, further studies with other methods are required to evaluate other gene mutations such as pendrin, sodium-iodide symporter (NIS) and thyroglobuli