Jak2 gen mutasyonları hipertrofik kardiyomiyopati etiyolojisinde rol oynamıyor; kesitsel, gözlemsel bir çalışma

Year 2025, Volume: 6 Issue: 3, 52 - 56, 30.09.2025

Sevil Gülaştı , Çağdaş Akgüllü , Ufuk Eryılmaz , Mehmet Akdeniz , Gökay Bozkurt , Tarkan Tekten

Abstract

Amaç: Hipertrofik Kardiyomiyopati (HKMP) altta yatan herhangi bir neden olmaksızın ortaya çıkan sol ventrikülün kontrolsüz ve ciddi hipertrofisi ile karakterizedir. Miyokardiyal hipertrofiye yol açan mekanizmalar halen tam olarak anlaşılamamıştır. Literatürde Jak/Stat sinyal yolağının miyokard hipertrofisi ile ilgili olabileceğine dair hayvan çalışmaları bulunmaktadır. Bu çalışma HKMP’si olan hastalarda Jak mutasyonlarının rolünü araştırmayı hedeflemektedir.
Yöntem: Çalışma Adnan Menderes Üniversitesi Tıp Fakültesi kardiyoloji polikliniğince takip ve tedavi edilen 26 HKMP hastası ile yapılmıştır. Kan örnekleri EDTA içeren tüplere alınarak, DNA izolasyon kiti yardımıyla total DNA genomu izole edilmiş ve ilgili ekzonlar PCR metoduyla amplifiye edilmiştir. PCR sonrası nükleotid dizileri DNA dizi analiz sistemi yardımıyla analiz edilmiştir.
Bulgular: 11 kadın ve 15 erkek HKMP hastası çalışmaya dahil edilmiştir (ortalama yaş 52,2±12,5). Hastaların 19’unda septal, 3 ‘ünde apikal, 4’ünde konsantrik sol ventrikül hipertrofisi mevcuttu. 14’ünde sol ventrikül çıkış yolunda gradiyent saptandı. 13’nün ailesel geçiş öyküsü mevcuttu. 22’si sinüs ritmindeydi ve 4’ünde paroksismal atriyal fibrilasyon mevcuttu. Sonuçta 26 hastanın hiçbirisinde Jak2 gen mutasyonu saptanmadı.
Sonuç: Çalışmamızın kısıtlılığı rölatif olarak küçük sayıdaki hasta popülasyonudur. Çalışmamızın verilerinin daha büyük randomize çalışmalar ile desteklenmesi gerekir. Çalışmamıza ait kısıtlı veri HKMP ile Jak2 mutasyonları arasında anlamlı bir ilişki olmayabileceğine işaret etmektedir.

Keywords

hipertrofi , hipertrofik kardiyomyopati , jak 2 mutasyonları , sol ventrikül

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

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

hypertrophy , hypertrophic cardiomyopathy , jak2 mutations , left ventricle

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