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Beta myosin heavy chain mutations R403QLW, V606M, K615N and R663H in patients with hypertrophic cardiomyopathy [Anatol J Cardiol]
Anatol J Cardiol. 2014; 14(3): 244-250 | DOI: 10.5152/akd.2014.4730  

Beta myosin heavy chain mutations R403QLW, V606M, K615N and R663H in patients with hypertrophic cardiomyopathy

Sevcan Atay1, Aslı Tetik1, Vildan Bozok Çetintaş2, Selcen Yakar Tülüce3, Kamil Tülüce4, Meral Kayıkçıoğlu4, Zuhal Eroğlu6
1Department of Medical Biology, Faculty of Medicine, Ege University, İzmir-Turkey
2Departments of Medical Biology Cardiology, Faculty of Medicine, Ege University, İzmir-Turkey
3Clinic of Cardiology, Atatürk Training and Research Hospital, İzmir-Turkey
4Department of Cardiology, Faculty of Medicine, Ege University, İzmir-Turkey
5Department of Cardiology, Faculty of Medicine, Ege University, İzmir-Turkey
6Department of Medical Biology, Faculty of Medicine, Ege University,İzmir, Turkey

Objective: Hypertrophic cardiomyopathy (HCM) is a disease of the myocardium with an autosomal-dominant pattern of inheritance mainly caused by single heterozygous mutations in sarcomere genes. In this study we aimed to detect the presence of R403QLW, V606M, K615N, and R663H mutations in beta-myosin heavy-chain gene (MYH7) and figure out the genotype-phenotype correlations in Turkish patients with HCM. Methods: This case-control study based on genotype-phenotype correlation included 69 patients (mean age, years: 50±13.16) diagnosed with HCM constituting the study group and 50 healthy individuals (mean age, years: 52±1.4) constituting the control group. DNA was extracted from peripheral blood and the genotyping of mutations was performed by real-time PCR technique and high resolution melting analysis. Associations between categoric variables were determined using chi-square tests. Differences between two groups were compared with unpaired Student’s t-test for continuous variables. Results: None of the patients in the HCM group were carrying the index mutations. One healthy individual was found to be heterozygous for the R663H mutation with mildly abnormal IVS and LVPW thickness. The allele frequency for R663H (G>A) mutation was found to be 0.01% in control group. Conclusion: We performed a mutational screening of 6 HCM-associated mutations in 69 Turkish HCM patients (not previously studied except R403Q). There was no significant difference in the prevalence of the mutations between the patients with HCM and the healthy controls (p>0.05).

Keywords: hypertrophic cardiomyopathy, mutation, cardiac beta-myosin heavy chain


Hipertrofik kardiyomiyopatili hastalarda beta miyozin ağır zincir genindeki R403QLW, V606M, K615N ve R663H mutasyonlarının araştırılması

Sevcan Atay1, Aslı Tetik1, Vildan Bozok Çetintaş2, Selcen Yakar Tülüce3, Kamil Tülüce4, Meral Kayıkçıoğlu4, Zuhal Eroğlu6
1Department of Medical Biology, Faculty of Medicine, Ege University, İzmir-Turkey
2Departments of Medical Biology Cardiology, Faculty of Medicine, Ege University, İzmir-Turkey
3Clinic of Cardiology, Atatürk Training and Research Hospital, İzmir-Turkey
4Department of Cardiology, Faculty of Medicine, Ege University, İzmir-Turkey
5Department of Cardiology, Faculty of Medicine, Ege University, İzmir-Turkey
6Department of Medical Biology, Faculty of Medicine, Ege University,İzmir, Turkey

Amaç: Hipertrofik kardiyomiyopati, sarkomer proteinlerini kodlayan genlerde meydana gelen mutasyonlar sonucu gelişen, otozomal dominant kalıtıma sahip primer kalp kası hastalığıdır. Bu çalışmada; hipertrofik kardiyomiyopati hastalarında, beta miyozin ağır zinciri geninde (MYH7) frekanslarının ve fenotipik ifadelerinin araştırılması hedeflenmiştir. Yöntemler: Bu genotip-fenotip ilişkisinin araştırıldığı vaka-kontrol çalışmasına hipertrofik kardiyomiyopati tanısı konmuş 69 hasta (yaş ort, yıl: 50±13,16) ve 50 sağlıklı gönüllü (yaş ort., yıl 52±1,4) dahil edildi. Periferal kandan DNA izole edilerek mutasyonların genotiplendirmesi Real Time PCR ve high resolution melting analizi ile gerçekleştirildi. İstatiksel analizler ki-kare (X2) testi ve Student’s t-test ile gerçekleştirildi. Bulgular: İncelenen 69 olguda mutasyon gözlenmedi. Kontrol grubundan 1 kişinin R663H mutasyonu açısından heterozigot genotipe sahip olduğu ve hafif dereceli sol ventrikül hipertrofisi gösterdiği saptandı. R663H (G>A) mutasyonunun kontrol grubundaki allel frekansının %0,01 olduğu bulundu. Sonuç: Bu çalışmada hipertrofik kardiyomiyopati hastalarında hastalıkla ilişkili 6 mutasyonun taraması gerçekleştirilmiştir. Araştırılan mutasyonlardan R403Q hariç diğer mutasyonlar daha önce Türk toplumunda çalışılmamıştır. Hasta ve kontrol grubu araştırılan mutasyonların prevalansı açısından karşılaştırıldığında aralarında anlamlı bir farklılık bulunmamıştır (p>0,05).

Anahtar Kelimeler: hipertrofik kardiyomiyopati, mutasyon, kardiyak beta-miyozin ağır zinciri


Sevcan Atay, Aslı Tetik, Vildan Bozok Çetintaş, Selcen Yakar Tülüce, Kamil Tülüce, Meral Kayıkçıoğlu, Zuhal Eroğlu. Beta myosin heavy chain mutations R403QLW, V606M, K615N and R663H in patients with hypertrophic cardiomyopathy. Anatol J Cardiol. 2014; 14(3): 244-250


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