Human Cardiac Ryanodine Receptor

ד"ר קיציס שלום רב מאמר זה מתוך האתר american heart association אני רוצה שתקרא רגע אם יש לך זמן וסבלנות ותענה לי על כמה שאלות Researchers map gene mutation that causes sudden death in children DALLAS, Dec. 12 — Italian researchers have mapped a gene mutation that causes a rapid heartbeat that can lead to sudden death in children. The study will appear online today at http://circ.ahajournals.org/rapidtrack.shtml as a "Rapid Track" publication of Circulation: Journal of the American Heart Association. The manuscript will be published in the Jan. 16 issue of the journal. Rapid Track articles have been designated by the journal editor as breakthrough information. The researchers found that a mutation in the cardiac ryanodine receptor gene, which controls the levels of calcium inside heart cells, may predispose the heart to develop abnormal rhythms that could lead to sudden cardiac death. This condition, known as catacholamineric polymorphic ventricular tachycardia (CPVT), often strikes children during physical exertion OR while experiencing strong emotions. "Finding the gene may help identify individuals at risk," says study author Silvia Priori, M.D., Ph.D., of the University of Pavia, Italy. Once CPVT is detected, devices such as implantable defibrillators that correct the heartbeat OR drugs such as beta-blockers can be used to prevent the rapid heartbeat called tachycardia AND help prevent sudden death. Researchers studied the genes of 12 individuals who had CPVT. Their analysis revealed that individuals with the condition had mutations in the ryanodine receptor gene. The gene regulates how the heart muscle uses calcium, which is involved in helping the heart keep a normal rhythm. The condition is hard to diagnose — often the first symptom is fainting. Unlike individuals with other heart conditions that cause sudden death, such as Long QT Syndrome OR Brugada Syndrome, CPVT patients have normal results on an electrocardiogram, a test that measures the heart's electrical activity. Furthermore, the condition does not cause structural abnormalities. Thus, echocardiograms, commonly used to view heart structure AND identify problems such as an enlarged heart, are not helpful. Priori says the best tools to identify CPVT are an exercise stress test AND a Holter recording, which graphically records electric currents generated by the heart. Priori's team found that most of the individuals with the gene mutation had a family history of fainting AND sudden death. Five of the 12 study participants had a family history of fainting OR juvenile sudden cardiac death. In one family studied, two children died — a 3-year-old who had a history of fainting spells AND a 7-year-old who died while running. In a second family, two sisters died suddenly — one at age 14 while being "interrogated" at school AND the other at age 16 while climbing stairs. "Patients with CPVT, as a consequence of the mutation in the ryanodine gene, have an increased sensitivity to calcium. Therefore, intense stimulation due to emotional stress OR increased physical activity may lead to calcium overload AND precipitate severe arrhythmias Circulation accepts manuscripts for review on a Rapid Track for Publication for the most important clinical research trials AND for carefully selected major clinical AND basic science discoveries related to cardiovascular medicine. American Heart Association/ Co-authors: Carlo Napolitano, M.D., Ph.D.; Natascia Tiso, Ph.D.; Mirella Memmi, Ph.D.; Gabriele Vignati, M.D.; Raffaella Bloise, M.D.; Vincenzo Sorrentino, M.D.; AND Gian Antonio Danieli, B.Sc האם שמעת על זה? האם אתר מכיר את אותה הפרעת קצב בשם CPVT והאם ידוע לך על קיום מוטציה גנטית בגן Ryandine receptor הגורמת לאותה הפרעת קצב קטלנית CPVT? ואיך בכלל אפשר לגלות מוטציות כאלה? למשל ניקח את ההומוסקסואליות ,עד היום לא יודעים בוודאות אם הומוסקסואליות זה גנטי או סביבתי ועוד לא איבחנו את "הגן" נגיד את זה ככה הגורם לנטיה הומוסקסואלית אז איך זה שכבר הצליחו לאבחן מוטציות הגורמות למוות פתאומי ,איבחון של הסיבה למוות פתאומי הוא יותר קל מאיבחון של הסיבה להומוסקסואליות? אודה לך מאוד מאוד אם תענה לי על השאלות הללו אני פשוט עושה מחקר תבורך ד"ר יקר שבוע טוב! נעמה

לא שמעתי על כך - סליחה. אם את צרץ לכי למומחה להפרעות קצב או מומחה לגנטיקה תודה