基因疗法,心脏病 z-bio 2021-02-21 292

　　A study funded by the British Heart Foundation (BHF) showed that newly discovered genetic defects in heart patients can be passed on to their family members, thereby changing the diagnosis and treatment of the disease.

　　 This discovery was published in "Nature Genetics". Hypertrophic cardiomyopathy (HCM) is a quiet family killer. The thickened heart muscle can cause sudden death in young people.

　　 This latest breakthrough discovery may be the biggest advancement in the genetic basis of the disease in 25 years. This helps doctors more accurately predict which families need disease monitoring and which families can be excluded or excluded through further examination. For more than 25 years, scientists have known that HCM is caused by a "rare" genetic defect in the "machine" that helps to contract the heart muscle and pump blood around the body. However, researchers and cardiologists have never been able to do this. Explain why this situation is so different between families with the same rare mutations, and why some people without these mutations still develop HCM. Professor Hugh Watkins of the Radcliffe School of Medicine at Oxford University and his team discovered that another genetic defect that has nothing to do with the contraction mechanism, the "general mutation," has disappeared. A difficult problem.

　　Researchers compared the DNA of 2780 HCM patients and 47486 healthy people without HCM. The number of these common and rare mutations made people sick. I found that I can determine whether it is protected or more sensitive. Another important finding is that people with HCM due to common mutations are less likely to pass the disease to their children.

　　 In the UK, the prevalence of HCM is about one in 500, but most people with HCM rarely experience symptoms. If not detected and treated in time, even adolescents under the age of 35 can cause sudden cardiac death.

　　Watkin said: “We have discovered a new genetic tool. We believe that we can more accurately predict which members of the affected families will get sick and identify those who need early intervention. This will benefit many families. Cardiologist Professor Nilesh Samani said: “For children’s genetic defects, we can reduce the need for unnecessary genetic testing and regular follow-up.” “This research is an important step for us. Understanding the inheritance of hypertrophic cardiomyopathy Learning. This completely changed the way of screening for such silent killers. "HCM is the most common genetic heart disease. One of them affects thousands of people. Millions of families in the UK. These discoveries provide many families with the long-awaited answers without worrying about whether they are inherited This disease. This will save many people from routine clinical testing."

　　 The impact of this research is extensive. The study also showed that blood pressure in HCM patients is reduced due to these "common" genetic defects.