대구 지역에서 발견된 고지혈종 가계에 대한 연구 = Studies on a Hyperlipidemic Family Found in Taegu Area

다국어 초록 (Multilingual Abstract)

This study was designed to search potential causes of a hyperlipidemic family found in Taegu area. Members of the family have been found to have an abnormally high content of low density lipoprotein (LDL)-cholesterol and a large size of very low density lipoprotein (VLDL) according to the results from lipid analyses and agarose gel electrophoresis, respectively. It turned out that Lecithin: cholesterol Acyltransferase activity, content of Lp (a) and HDL-cholesterol level of these family members were normal. However, activity of cholesteryl ester transfer protein (CETP, 50∼60% of CE transfer/6 hr) were very high compared to normal persons. In the restriction fragment length polymorphism(RFLP) analyses of CETP gene by Taq I restriction enzyme, 4.6 kb, 3.8 kb and 1.4 kb bands appeared in samples from both normal persons and hyperlipidemic patients. On the other hand, 2.5 kb and 0.8 kb bands which were found only in normal people and ischemic heart disease patients were not shown in the hyperlipidemic family. In the RFLP analyses of apo-E gene by Hha I, there were significant differences in the band patterns between the control groups and the hyperlipidemic subjects. In the RFLP analyses of apo-B gene by Msp I, normal persons showed a consistent 2.2 kb band and a polymorphism at 0.7, 0.5, 0.4 and 0.1 kb, while some of hyperlipidemic family members had 9.4 kb band. In RFLP pattern of EcoR I restriction enzyme digestion, the normal and hyper-lipidemic family groups showed considerably different patterns.
In conclusion, blood cholesterol of this family seems to be rapidly transferred from HDL to VLDL or LDL due to the high CETP activity. The transferred cholesterol appears to be improperly cleared from the blood stream presumably by the abnormal apo-B and apo-E.