Evaluation of Genome in Early Familial Coronary Artery Disease: A Case Report
Journal Title: مجله علمی- پژوهشی دانشگاه علوم پزشکی قم - Year 2019, Vol 13, Issue 4
Abstract
Background and Objectives: Coronary artery diseases (CAD) are the most common cause of death in Iran and worldwide. Myocardial infarction (MI) is a complex multifactorial and the most severe type of CAD. Early onset MI in first degree relatives could be considered as an independent risk factor for CAD. This study was performed to investigate the genetic cause of early onset familial CAD. Case Report: The patient was a 49-year-old female, who had an acute MI at the age of 45. Evaluation of family history indicated that her father, older brother, aunts, and male cousin were also diagnosed to have MI, and had not any diagnostic criteria for familial hypercholesterolemia, diabetes, obesity, and also they did not use alcohol and tobacco. The c.6241C>T (p.Arg2081Trp) mutation was identified in ABCA1 gene in heterozygous state (CT) in proband using Whole Exome Sequencing. Mutation was confirmed by PCR and Sanger sequencing. This mutation in heterozygous state was found in all patients and not in others. This findings show that ABCA1 gene could be a possible cause of early onset familial CAD.
Authors and Affiliations
Mohammad Javad Ghorbani, Nematollah Razmi, Seyed Mohammad Bagher Tabei, Hamid Reza Goodarzi
اپیدمیولوژی مرگ های ناشی از تصادفات محورهای استان قم در 1393
زمینه و هدف: هرساله تعداد زیادی از هموطنان بهعلت حوادث ترافیکی جان خود را از دست میدهند. حوادث ترافیکی، بار اقتصادی و اجتماعی قابلتوجهی به دنبال دارد و درصورت عدمتوجه جدی ممکن است به یک فاجعه ملی تبدیل شود. این مطالع...
Effect of 12 Weeks of Treadmill Aerobic Training on Cytochrome c and Caspase-9 gene Expression in Cardiac Muscle of Male Rats
Background and Objectives: Apoptosis plays an important role in the development of cardiovascular diseases, especially heart failure. Some evidences suggest that exercise training may alter apoptosis-related signaling in...
A Case Report of Secondary Infertility Due to Retained Surgical Gauze
Background and Objectives: One of the rare side effects of abdominal and pelvic surgery is retained surgical instruments or dressings in the site of surgery. Secondary infertility due to retained foreign body in the pelv...
ارتباط بین میزان و منابع استرس شغلی با دردهای اسکلتی - عضلانی کارکنان یک بیمارستان در شهر تهران
زمینه و هدف: آسیبهای اسکلتی - عضلانی مرتبط با کار، ازجمله بزرگترین مشکلات بهداشت شغلی کارکنان به شمار میروند. استرس شغلی، از علل مهم اختلالات اسکلتی - عضلانی محسوب میشود. این مطالعه با هدف بررسی ارتباط بین میزان و منا...
Prevalence of Intestinal Parasitic Diseases in the Students of Qom City and Hygiene Status of Their Schools, Iran
Background and Objectives: Parasitic diseases are one of the major hygienic and economic problems in most of the developing countries and dealing with them is one of the most important parts of the national development p...