Jak2 gene mutations seems not to play a role in the etiology of hypertrophic cardiomyopathy; cross-sectional, observational study

Authors : Sevil Gülaştı, Çağdaş Akgüllü, Ufuk Eryılmaz, Mehmet Akdeniz, Gökay Bozkurt, Tarkan Tekten
Pages : 52-56
Doi:10.55665/troiamedj.1622451
View : 38 | Download : 43
Publication Date : 2025-09-30
Article Type : Research Paper
Abstract :Objective: Hypertrophic Cardiomyopathy (HCMP) is characterized with uncontrolled and severe hypertrophy of left ventricle without any determined underlying reason. The mechanisms causing myocardial hypertrophy are still not fully understood. In the literature there are some data with animal studies about Jak/STAT signal pathway may be related to myocardial hypertrophy. This study aimed to surrogate the Jak mutations in patients with HCMP. Methods: The study included 26 patients with HCMP that were under management and monitorization of Adnan Menderes University cardiology out patient clinic. Blood samples were taken into collecting tubes with EDTA and with the help of DNA isolation kit, total genomic DNA was isolated and related exons were amplified with the PCR method. After PCR, sequence of nucleotids were analysed with the DNA sequence analysis system. Results: 11 woman and 15 male HCMP patients were included to the study (the median age was 52,2±12,5) 19 of them have septal, 3 of them have apical and 4 of them have concentric type LVH. 14 of them have gradient in left ventricular outflow tract.13 of them have familial history of HCMP. 22 of them have sinus rhythm and 4 of them have paroxysmal atrial fibrillation. At the end of the study Jak2 gene mutations were not determined in any of our 26 HCMP patients. Conclusion: The limitation of our study was relatively small number of patients. The confirmation of data with randomised bigger studies is needed. Our relatively small data is suggesting that there may be no relation with HCMP and Jak2 mutations.
Keywords : hipertrofi, hipertrofik kardiyomyopati, jak 2 mutasyonları, sol ventrikül

ORIGINAL ARTICLE URL