Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study | Hedley et al. Journal of Negative Results in BioMedicine 2011 10 12 http content 10 1 12 r M 1 JOURNAL OF NEGATIVE RESULTS IN BIOMEDICINE RESEARCH Open Access The KCNE genes in hypertrophic cardiomyopathy a candidate gene study Paula L Hedley1 2 Ole Haundrup3 Paal S Andersen4 Frederik H Aidt1 Morten Jensen5 Johanna C Moolman-Smook2 Henning Bundgaard5 and Michael Christiansen1 Abstract Background The gene family KCNE1-5 which encode modulating b-subunits of several repolarising K -ion channels has been associated with genetic cardiac diseases such as long QT syndrome atrial fibrillation and Brugada syndrome. The minK peptide encoded by KCNE1 is attached to the Z-disc of the sarcomere as well as the T-tubules of the sarcolemma. It has been suggested that minK forms part of an electro-mechanical feed-back which links cardiomyocyte stretching to changes in ion channel function. We examined whether mutations in KCNE genes were associated with hypertrophic cardiomyopathy HCM a genetic disease associated with an improper hypertrophic response. Results The coding regions of KCNE1 KCNE2 KCNE3 KCNE4 and KCNE5 were examined by direct DNA sequencing in a cohort of 93 unrelated HCM probands and 188 blood donor controls. Fifteen genetic variants four previously unknown were identified in the HCM probands. Eight variants were non-synonymous and one was located in the 3 UTR-region of KCNE4. No disease-causing mutations were found and no significant difference in the frequency of genetic variants was found between HCM probands and controls. Two variants of likely functional significance were found in controls only. Conclusions Mutations in KCNE genes are not a common cause of HCM and polymorphisms in these genes do not seem to be associated with a propensity to develop arrhythmia Background Hypertrophic cardiomyopathy HCM is a condition characterised by increased wall predominantly septal thickness diastolic dysfunction and an increased risk of heart failure stroke .
