title: Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.
abstract: Primary hyperlipidemia is caused by various molecular defects in lipid metabolism. The Research Committee on Primary Hyperlipidemia organized by the Ministry of Health and Welfare of Japan (present: the Ministry of Health, Labour and Welfare) has investigated reported mutations in Japanese patients with primary hyperlipidemia and related disorders (including hypolipidemia), and has created a database based on the questionnaire sent to the members of council board of the Japan Atherosclerosis Society. Mutations in the following genes were investigated: low density lipoprotein receptor, lecithin: cholesteryl acyltransferase, lipoprotein lipase (LPL), hepatic lipase, apolipoproteins A-I, A-II, A-IV, B, C-II, C-III and E, microsomal triglyceride transfer protein, and cholesterol ester transfer protein (CETP). Until 1998, 922 patients with primary hyperlipidemia and related disorders has been registered with the Research Committee, and 190 mutations in 15 genes had been reported, showing a marked variation in Japanese patients with primary hyperlipidemia and related disorders. So-called "common mutations" have been described in Japanese patients with familial hypercholesterolemia, LPL deficiency and CETP deficiency. The genetic defect of familial combined hyperlipidemia (FCHL) is still unknown although FCHL is speculated to be the most prevalent genetic hyperlipidemia, and further investigations should be performed to elucidate the molecular mechanisms of FCHL
authors.affiliation: Department of Internal Medicine and Molecular Science, Graduate School of Medicine, Osaka University.
authors.forename: Takao
authors.initials: T
authors.lastname: Maruyama
authors.forename: Shizuya
authors.initials: S
authors.lastname: Yamashita
authors.forename: Yuji
authors.initials: Y
authors.lastname: Matsuzawa
authors.forename: Hideaki
authors.initials: H
authors.lastname: Bujo
authors.forename: Kazuo
authors.initials: K
authors.lastname: Takahashi
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Saito
authors.forename: Shun
authors.initials: S
authors.lastname: Ishibashi
authors.forename: Ken
authors.initials: K
authors.lastname: Ohashi
authors.forename: Futoshi
authors.initials: F
authors.lastname: Shionoiri
authors.forename: Takanari
authors.initials: T
authors.lastname: Gotoda
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Yamada
authors.forename: Toru
authors.initials: T
authors.lastname: Kita
mesh_terms: D044466:Asian People / Q000235:genetics*; D002784:Cholesterol / Q000378:metabolism; D008076:Cholesterol, HDL / Q000378:metabolism; D006801:Humans; D006949:Hyperlipidemias / Q000453:epidemiology / Q000235:genetics*; D007564:Japan / Q000453:epidemiology; D008052:Lipid Metabolism, Inborn Errors / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012042:Registries; D014280:Triglycerides / Q000378:metabolism
chemical_list: D008076:Cholesterol, HDL; D014280:Triglycerides; D002784:Cholesterol