Molecular Mechanisms of Cholesteryl Ester Transfer Protein Deficiency in Japanese
| ISSN: | 1880-3873 1340-3478 |
|---|---|
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a76a0cd6a28a0539f17d2650d95643d8 https://doi.org/10.5551/jat.11.110 |
| Rights: | OPEN |
| Přírůstkové číslo: | edsair.doi.dedup.....a76a0cd6a28a0539f17d2650d95643d8 |
| Autor: | Naohiko Sakai, Mayumi Takano, Tohru Egashira, Kazuya Tanaka, Takeshi Kujiraoka, Yuji Matsuzawa, Shizuya Yamashita, Hiroaki Hattori, Norimichi Nakajima, Takao Maruyama, Makoto Nagano, Ken-ichi Hirano, Mitsuaki Ishihara, Yukiko Sagehashi |
| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Hyperlipoproteinemias medicine.medical_specialty Adolescent Apolipoprotein B Arteriosclerosis Severity of Illness Index chemistry.chemical_compound High-density lipoprotein Asian People Japan Metabolic Diseases Internal medicine Cholesterylester transfer protein Internal Medicine Humans Medicine Coronary atherosclerosis Glycoproteins Polymorphism Genetic biology business.industry Cholesterol Biochemistry (medical) Reverse cholesterol transport Middle Aged Lipid Metabolism Cholesterol Ester Transfer Proteins carbohydrates (lipids) Endocrinology chemistry Low-density lipoprotein Mutation biology.protein Cholesteryl ester Female lipids (amino acids peptides and proteins) Carrier Proteins Cardiology and Cardiovascular Medicine business |
| Zdroj: | Journal of Atherosclerosis and Thrombosis. 11:110-121 |
| ISSN: | 1880-3873 1340-3478 |
| Popis: | Plasma cholesteryl ester transfer protein (CETP) facilitates the transfer of cholesteryl ester (CE) from high density lipoprotein (HDL) to apolipoprotein B-containing lipoproteins. Since CETP regulates the plasma levels of HDL cholesterol and the size of HDL particles, CETP is considered to be a key protein in reverse cholesterol transport (RCT), a protective system against atherosclerosis. The importance of plasma CETP in lipoprotein metabolism was demonstrated by the discovery of CETP-deficient subjects with marked hyperalphalipoproteinemia (HALP). Genetic CETP deficiency is the most important and common cause of HALP in the Japanese. Ten mutations of the CETP gene have been demonstrated as causes of HALP, including two common mutations: an intron 14 splicing defect (Int14 + 1 G --> A) and an exon 15 missense mutation (D442G). The subjects with CETP deficiency show a variety of abnormalities in the concentration, composition, and function of both HDL and low density lipoprotein (LDL). CETP deficiency is considered a physiological state of impaired RCT, which may possibly lead to the development of atherosclerosis despite high HDL cholesterol levels. However, the pathophysiological significance of CETP in terms of atherosclerosis has been controversial. Epidemiological studies in Japanese-Americans living in Hawaii and Japanese in the Omagari area, where HALP subjects with an intron 14 splicing defect of the CETP gene are markedly frequent, have shown a relatively increased incidence of coronary atherosclerosis in CETP deficiency. On the other hand, the TaqIB polymorphism-B2 allele with low CETP mass and increased HDL cholesterol has been related to a decreased risk for coronary heart disease (CHD) in many studies, including the Framingham Offspring Study. The current review focused on the characterization of the Japanese subjects with CETP deficiency, including our recent findings. |
| Databáze: | OpenAIRE |
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