Studies have found that rare genetic mutations may prevent heart disease

May 22, 2019 / biogood / - due to the risk of fatty liver, the clinical trial of apoB gene has not been tested for cardiovascular results, but the natural mutation shows that it may be effective Photo source: http://cn.bing.com a new study led by researchers at the school of public health (busph), Boston University, suggests that a rare genetic mutation may prevent heart disease The study, published in the Journal of genetic and precision medicine, found that the mutation of apoB gene protein truncation was related to the reduction of triglyceride and LDL cholesterol levels, which could reduce the risk of coronary heart disease by 72% The mutation of protein truncation in apoB gene is one of the causes of familial Hypolipidemia (FHBL) Familial Hypolipidemia results in less LDL and triglyceride rich lipoproteins LDL cholesterol is usually low in FHBL patients, but the risk of fatty liver is high Dr Gina peloso, assistant professor and co-author of the study, said: "an approved drug, mipomersen, mimics the effect of one of these variants in apoB, but there is no clinical trial on cardiovascular disease due to the risk of fatty liver "The researchers sequenced the apoB genes of 29 members of the Japanese FHBL family Among them, 8 Japanese families had apoB protein truncation variation, and LDL cholesterol level of one variant was 55 mg / dl lower and triglyceride level was 53% lower than that of the individuals without apoB variation The researchers also sequenced the apoB gene of 57973 participants in 12 coronary heart disease case-control studies from Africa, Europe and South Asia, 18442 of whom had early-onset coronary heart disease Again, they found that LDL cholesterol and triglycerides levels were lower in people with these apoB mutations Only 0.038% of patients with coronary heart disease carry apoB mutation, while 0.092% of patients without coronary heart disease carry apoB mutation, which shows that carrying apoB gene mutation can reduce the risk of coronary heart disease Reference: Gina M peloso et al Rare protein trusting variants in apoB, lower LDL-C, and protection against coral heart disease Circulation: genetic and precision medicine