title: A deficiency of cholesteryl ester transfer protein whose serum remnant-like particle-triglyceride significantly increased, but serum remnant-like particle-cholesterol did not after an oral fat load.
abstract: BACKGROUND
  We found a unique cholesteryl ester transfer protein (CETP) deficient case with markedly elevated serum triglyceride (TG) as well as high-density lipoprotein cholesterol (HDL-C) levels. Most of the CETP deficiency cases were reported to have normal or reduced serum TG with elevated HDL-C.
  
  
  METHODS
  The case subject was a 40-year-old male with a compound heterozygous CETP deficiency. Two heterozygous CETP deficient cases and 10 normal volunteers were also recruited as controls. They underwent an oral fat tolerance test (OFTT) and their blood was taken at fasting and during the OFTT to be used for laboratory tests.
  
  
  RESULTS
  The case subject had apolipoprotein E (apo-E) phenotype 4/2 with fatty liver but without any cardiovascular disease. His serum TG, HDL-C, apo-AI and apo-B48 levels were significantly higher, but the low-density lipoprotein cholesterol level was lower than controls. Although post-heparin plasma lipoprotein lipase and hepatic lipase (both mass and activity) were nearly normal, the serum level of angiopoietin-like-protein-3 was extremely elevated. While his serum remnant-like particles-TG (RLP-TG) and total TG levels significantly increased after a fat load, the RLP-cholesterol (RLP-C) level did not increase during OFTT.
  
  
  CONCLUSIONS
  The case subject was different from the common CETP deficient cases reported previously. Also, the results indicated that the metabolic pathways of RLP-C and RLP-TG formation in the postprandial state are controlled independently in CETP deficient cases. CETP deficiency itself may not be atherogenic, while one with elevated RLPs may be atherogenic. These cases may have raised the controversy of whether CETP deficiency is atherogenic or not.
authors.affiliation: Life Science and Bioethics Research Center, Tokyo, Japan. ai.vasc@tmd.ac.jp
authors.forename: Masumi
authors.initials: M
authors.lastname: Ai
authors.forename: Akira
authors.initials: A
authors.lastname: Tanaka
authors.forename: Kentaro
authors.initials: K
authors.lastname: Shimokado
authors.forename: Rumiko
authors.initials: R
authors.lastname: Ohtani
authors.forename: Akihiro
authors.initials: A
authors.lastname: Inazu
authors.forename: Junji
authors.initials: J
authors.lastname: Kobayashi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mabuchi
authors.forename: Takamitsu
authors.initials: T
authors.lastname: Nakano
authors.forename: Katsuyuki
authors.initials: K
authors.lastname: Nakajima
mesh_terms: D000328:Adult; D000368:Aged; D053480:Cholesterol Ester Transfer Proteins / Q000097:blood* / Q000172:deficiency* / Q000235:genetics; D008076:Cholesterol, HDL / Q000378:metabolism; D005234:Fatty Liver / Q000378:metabolism; D005260:Female; D005951:Glucose Tolerance Test; D006493:Heparin / Q000494:pharmacology; D006579:Heterozygote; D006801:Humans; D008055:Lipids / Q000737:chemistry; D008297:Male; D010641:Phenotype; D012306:Risk; D014280:Triglycerides / Q000097:blood
chemical_list: D053480:Cholesterol Ester Transfer Proteins; D008076:Cholesterol, HDL; D008055:Lipids; D014280:Triglycerides; D006493:Heparin