The mitochondrial DNA mutations associated with cardiac arrhythmia investigated in an LQTS family
- سال انتشار: 1393
- محل انتشار: مجله علوم پایه پزشکی ایران، دوره: 17، شماره: 9
- کد COI اختصاصی: JR_IJBMS-17-9_005
- زبان مقاله: انگلیسی
- تعداد مشاهده: 291
نویسندگان
Department of Biology, Yazd University, Yazd, Iran
Department of Biology, Yazd University, Yazd, Iran
Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran
چکیده
Objective(s): As mitochondrial oxidative stress is probably entailed in ATP production, a candidate modifier factor for the long QT syndrome (LQTS) could be mitochondrial DNA (mtDNA). It has been notified that ion channels' activities in cardiomyocytes are sensitive to the ATP level. Materials and Methods: The sample of the research was an Iranian family with LQTS for mutations by PCR-SSCP and DNA sequencing. The study searched about ۴۰% of the entire mitochondrial genome in the family. Results: Four novel mutations that lead to an amino acid substitution and two mutations in mitochondrial tRNA have been informed in this study. A Statistically significant correlation (r = ۰.۷۳۷) between QTc (ms) and the age of LQTS patients has been reported. Conclusion: The research data show that these mitochondrial mutations, in a family with LQTS, might be the responsible mitochondrial that defect and increase the gravity of LQTS.کلیدواژه ها
Arrhythmia, Long QT syndrome, Mitochondrial DNA, Mutation, SSCPاطلاعات بیشتر در مورد COI
COI مخفف عبارت CIVILICA Object Identifier به معنی شناسه سیویلیکا برای اسناد است. COI کدی است که مطابق محل انتشار، به مقالات کنفرانسها و ژورنالهای داخل کشور به هنگام نمایه سازی بر روی پایگاه استنادی سیویلیکا اختصاص می یابد.
کد COI به مفهوم کد ملی اسناد نمایه شده در سیویلیکا است و کدی یکتا و ثابت است و به همین دلیل همواره قابلیت استناد و پیگیری دارد.