Frequency of Janus Kinas 2V617F (JAK2V617F) Mutation among Children with Type 1 Diabetes Mellitus

Abstract

Background and Objectives: Type 1 Diabetes mellitus (T1DM) is a disorder of glucose homeostasis results from the destruction of β- cells of the pancreas with subsequent insulin deficiency and hyperglycemia. Acquired mutation (V617F) affecting the JAK2 gene disrupts the auto-inhibition of JAK2 and results in constitutive activation of the Janus Kinase 2(JAK2)/signal transducer and activator of transcription (STAT) pathway. Once activated, the JAK/STAT pathway stimulates cell proliferation, differentiation, migration and apoptosis critically involved in growth control. Studies investigating the possible role of Janus kinas 2V617F (JAK2V617F) mutation and risk of T1DMor development of diabetic complications among such children are very few. So we aimed in this pilot study to estimate the relative frequency of Janus kinas 2V617F (JAK2V617F) mutation among a sample of children with T1DM. Patients and Methods: This cross-sectional study included 25 Egyptian children with T1DM. Full clinical evaluation, routine laboratory investigations including kidney function, RBG, HbA1C and A/C ratio were done. Determination of JAK 2v617f gene mutation was performed using real time-PCR. Results: The included diabetic children were 15 males and 10 females. Their mean random blood glucose was 272mg/dl±33 SD. Two cases exhibited mutation in the form of heterozygous type (Aa) representing 8% of the total included diabetic children and the remaining 23 (92%) diabetic children showed normal wild alleles (AA). There was a non-significant correlation between the glycemic control and the presence of JAK 2v617f gene mutation, p˃0.05. Conclusions: JAK 2v617f gene mutation present in a small percentage of non-complicated T1DM with lack of its correlation with the glycemic control.