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  • Title: Relationship between LDL receptor activity and development of coronary heart disease in Japanese cases with heterozygous familial hypercholesterolemia.
    Author: Yamashita S, Kawamoto T, Ueyama Y, Funahashi T, Hara H, Hirobe K, Matsuzawa Y, Yamamoto A, Tarui S.
    Journal: Artery; 1987; 15(1):24-43. PubMed ID: 3435251.
    Abstract:
    To assess the clinical significance of low density lipoprotein (LDL) receptor activity on the development of coronary heart disease (CHD) in patients with heterozygous familial hypercholesterolemia (FH), we determined the binding, internalization and degradation of 125I-LDL using skin fibroblasts from 66 Japanese cases with heterozygous FH over 30 years old. Although the LDL receptor activity showed a wide variation in the subjects with heterozygous FH, it negatively correlated with the serum LDL-cholesterol levels (r = -0.407, p less than 0.01 for internalization; r = -0.384, p less than 0.01 for degradation). There was no difference in the levels of serum total- and LDL-cholesterol between the CHD (+) (positive) and the CHD (-) (negative) groups, while the serum high density lipoprotein (HDL)-cholesterol level was lower in the CHD (+) group than in the CHD (-) group (p less than 0.01). The mean receptor activity (degradation) of the CHD (+) group was significantly lower than that of the CHD (-) group (p less than 0.05). Stepwise linear discriminant analysis disclosed that not the level of LDL-cholesterol but the LDL receptor activity could also be a discriminator of CHD in patients with heterozygous FH as well as age, serum HDL-cholesterol level and a smoking habit. In conclusion, LDL receptor activity of cultured fibroblasts may also be one of the factors involved in the development of CHD in patients with heterozygous FH.
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