Abstract
Cholesteryl ester transfer protein (CETP) is thought to regulate plasma HDL. Patients with CETP deficiency caused by mutation of the CETP gene [D442G; a missense mutation (Asp442→Gly)] have been reported to show high plasma HDL levels. However, there are no data available on children with D442G. To determine the effects of plasma CETP and CETP gene mutation (D442G) on lipids and lipoproteins in children, we screened children by PCR and restriction fragment length polymorphism analysis of the CETP gene. Plasma lipids, apolipoproteins, and CETP mass levels were also determined. In the current study, 22 children with D442G were found (21 heterozygotes and a homozygote). A homozygous child showed high plasma HDL level and very low plasma CETP mass. In heterozygous children, plasma concentrations of HDL cholesterol, apo A-I and apo A-II were not increased, whereas plasma CETP mass was significantly decreased. Plasma CETP mass in heterozygous children was correlated with plasma concentrations of total cholesterol, LDL cholesterol, and apo B. Plasma CETP mass in children without D442G was not correlated with the plasma concentration of any lipid or apolipoprotein. All of these data suggest that the D442G mutation, by itself, might not affect HDL metabolism in children. The CETP mass required for efficient HDL-cholesteryl ester clearance in children may be less than that in older subjects.
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Abbreviations
- CE:
-
cholesterol ester
- CETP:
-
cholesteryl ester transfer protein
- HDL-C:
-
HDL-cholesterol
- LCAT:
-
lecithin-cholesterol acyltransferase
- RFLP:
-
restriction fragment length polymorphism
- TC:
-
total cholesterol
- TG:
-
triglyceride
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Acknowledgements
The authors thank Drs. Toshinobu Matsuura and Toshiya Tamura for their excellent technical advice, and Dr. Ken Matuyama (Fussa Hospital, Tokyo) for referring the child who was homozygous for D442G.
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Supported by Health Sciences Research Grants (Research on Specific Diseases) from the Ministry of Health and Welfare and by Grant-in-aid No13470166 for Scientific Research (B) from The Ministry of Education, Science, Sports and Culture.
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Arashiro, R., Katsuren, K., Maung, K. et al. Effect of a Common Mutation (D442G) of the Cholesteryl Ester Transfer Protein Gene on Lipids and Lipoproteins in Children. Pediatr Res 50, 455–459 (2001). https://doi.org/10.1203/00006450-200110000-00006
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DOI: https://doi.org/10.1203/00006450-200110000-00006
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