The family of heart disease has a "cursed" gene

The family of heart disease has a "cursed" gene

November 26, 2018 Source: Health News Network

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Ten of the family's more than 50 members were diagnosed with heart disease, four had sudden death, four had permanent cardiac pacemakers, and other members had varying degrees of cardiac discomfort. And all of this stems from the "cursed" genes in the body. Recently, the team of Professor Shu Xianhong from Zhongshan Hospital affiliated to Fudan University, under the guidance of Ge Junbo, a member of the Chinese Academy of Sciences, discovered the largest known mitochondrial family of mitochondrial protein (LMNA) gene mutations. The world's first LMNA was discovered in the Han population. The disease-causing site is the first to combine advanced assisted reproductive technology with genetic diagnosis technology to prevent cardiomyopathy.

Ms. Cheng, 34, began to experience palpitation, chest tightness, and shortness of breath two years ago. The duration of each episode was not long, and the number of recent episodes increased significantly, accompanied by paroxysmal dizziness. At the time of the visit, Shu Xianhong found that Ms. Cheng’s heartbeat was only 43 beats/min, and her heart rate was irregular and she had a longer time to stop. By carefully inquiring Ms. Cheng's family history of heart disease, Shu Xianhong learned that of Ms. Cheng's eight brothers and sisters, 6 had cardiac abnormalities, three of them died suddenly, and two were implanted with pacemakers; the children of their fathers and sisters There are also varying degrees of cardiac dysfunction and arrhythmia problems.

"The problem may be in the genetics." Under the suggestion of Shu Xianhong, Ms. Cheng and her family all carried out genetic testing. After analysis, it was found that the new pathogenic gene mutation site of LMNA gene: LMNA c.1489-1G>C. The LMNA gene is located on chromosome 1, and the encoded protein forms the nuclear layer of the cell, which is the key structure for maintaining genomic stability and cell electromechanical stability. Throughout the family, Ms. Cheng's clinical manifestations and findings are highly compatible with the effects of LMNA gene mutations.

According to Shu Xianhong, LMNA mutations can cause malignant arrhythmias and dilated cardiomyopathy, which are often manifested as abnormalities in the cardiac conduction system. For members with pathogenic genes, Shu Xianhong suggested that the pacemaker should be implanted according to the situation and actively respond to possible risks. For the current carriers of normal pathogenic genes, it is recommended to regularly follow up the heart function and dynamic electrocardiogram for early intervention. At the same time, Shu Xianhong suggested that the family of patients and members carrying the disease-causing gene should assist in reproductive intervention to block the transmission of the disease-causing gene to the next generation.

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