Reduced hormone-sensitive lipase activity is not a major metabolic defect in Finnish FCHL families

Citation
K. Ylitalo et al., Reduced hormone-sensitive lipase activity is not a major metabolic defect in Finnish FCHL families, ATHEROSCLER, 153(2), 2000, pp. 373-381
Citations number
36
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Cardiovascular & Respiratory Systems","Cardiovascular & Hematology Research
Journal title
ATHEROSCLEROSIS
ISSN journal
0021-9150 → ACNP
Volume
153
Issue
2
Year of publication
2000
Pages
373 - 381
Database
ISI
SICI code
0021-9150(200012)153:2<373:RHLAIN>2.0.ZU;2-R
Abstract
The pathogenetic mechanisms behind familial combined hyperlipidemia (FCHL) are unknown. However, exaggerated postprandial lipemia and excessive serum free fatty acid (FFA) concentrations have drawn attention to altered lipid storage and lipolysis in peripheral adipose tissue. Hormone-sensitive lipas e (HSL) is the enzyme responsible for intracellular lipolysis in adipocytes and a decrease of adipocyte HSL activity has been demonstrated in Swedish FCHL subjects. The aim of the study was to investigate if adipose tissue HS L activity had any effect on lipid phenotype and if low HSL activity and FC HL were linked in Finnish FCHL families. A total of 48 family members from 13 well-characterized Finnish FCHL families and 12 unrelated spouses partic ipated in the study. FCHL patients with different lipid phenotypes (IIA, II B, IV) did not differ in adipose tissue HSL activity from each other or fro m the 12 normolipidemic spouses (P = 0.752). In parametric linkage analysis using an affecteds-only strategy the low adipose tissue HSL activity was n ot significantly linked with FCHL phenotype. However, we found a significan t sibling-sibling correlation for the HSL trait (0.51, P < 0.01). Thus, a m odifying or interacting role of HSL in the pathogenesis of FCHL could not b e excluded. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.