title: Serum C3 but not plasma acylation-stimulating protein is elevated in Finnish patients with familial combined hyperlipidemia.
abstract: A trapping defect of fatty acids due to impaired function of acylation-stimulating protein (ASP) has been suggested as one mechanism underlying the metabolic abnormalities in familial combined hyperlipidemia (FCHL). The study aimed at defining the role of ASP and complement C3 in 35 Finnish FCHL families. There was no difference in plasma ASP levels between the 66 hypertriglyceridemic FCHL patients and their 84 normotriglyceridemic relatives. No response in plasma ASP could be observed after a fatty meal in 10 FCHL patients or in 10 control subjects. In familial correlation analyses, C3 exhibited a significant sibling-sibling correlation. The FCHL patients had higher serum C3 levels than their unaffected relatives (P<0.001). Furthermore, serum C3 levels correlated significantly with several lipid parameters. The correlations between ASP and lipid variables were weaker than those of C3. These analyses suggest that common genes might contribute to the regulation of serum C3, triglycerides, HDL-C, free fatty acids, and insulin. The present data do not support the hypothesis that defects of the ASP pathway are reflected in plasma lipoproteins or in impaired plasma lipid clearance postprandially.
authors.affiliation: Department of Medicine, Helsinki University Central Hospital, University of Helsinki, Finland.
authors.forename: K
authors.initials: K
authors.lastname: Ylitalo
authors.forename: P
authors.initials: P
authors.lastname: Pajukanta
authors.forename: S
authors.initials: S
authors.lastname: Meri
authors.forename: R M
authors.initials: RM
authors.lastname: Cantor
authors.forename: N
authors.initials: N
authors.lastname: Mero-Matikainen
authors.forename: J
authors.initials: J
authors.lastname: Vakkilainen
authors.forename: I
authors.initials: I
authors.lastname: Nuotio
authors.forename: M R
authors.initials: MR
authors.lastname: Taskinen
mesh_terms: D000328:Adult; D001798:Blood Proteins / Q000378:metabolism*; D002914:Chylomicrons / Q000378:metabolism; D003176:Complement C3 / Q000378:metabolism*; D015926:Complement C3a / Q000031:analogs & derivatives*; D004041:Dietary Fats / Q000378:metabolism; D005192:Family Health; D005260:Female; D005387:Finland; D006801:Humans; D006950:Hyperlipidemia, Familial Combined / Q000378:metabolism*; D008297:Male; D010641:Phenotype; D014280:Triglycerides / Q000378:metabolism
chemical_list: D001798:Blood Proteins; D002914:Chylomicrons; D003176:Complement C3; D004041:Dietary Fats; D014280:Triglycerides; C044541:complement C3a, des-Arg-(77)-; D015926:Complement C3a