Autosomal Recessive Hypercholesterolemia: A Mild Phenotype of Familial Hypercholesterolemia: Insight from the Kinetic Study using Stable Isotope and Animal Studies

フォーマット:

論文

責任表示:

Tada, Hayato ; Kawashiri, Masa-aki ; Nohara, Atsushi ; Inazu, Akihiro ; Kobayashi, Junji ; Mabuchi, Hiroshi ; Yamagishi, Masakazu ; 多田, 隼人 ; 川尻, 剛照 ; 野原, 淳 ; 稲津, 明広 ; 小林, 淳二 ; 馬渕, 宏 ; 山岸, 正和

言語:

英語

出版情報:

Japan Atherosclerosis Society = 日本動脈硬化学会, 2015

著者名:

Tada, Hayato

Kawashiri, Masa-aki

Nohara, Atsushi

Inazu, Akihiro

Kobayashi, Junji

Mabuchi, Hiroshi

Yamagishi, Masakazu

多田, 隼人

川尻, 剛照

野原, 淳

稲津, 明広

小林, 淳二

馬渕, 宏

山岸, 正和

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掲載情報:

Journal of Atherosclerosis and Thrombosis

ISSN:

1340-3478      

巻:

22

通号:

1

開始ページ:

1

終了ページ:

9

バージョン:

publisher

概要:

金沢大学医薬保健研究域医学系<br />Autosomal recessive hypercholesterolemia (ARH) is an extremely rare inherited disorder, the cause of which is mutations in the low-density lipoprotein (LDL) receptor adaptor protein 1 (LDLRAP1) gene. Only 36 famili … es with 14 different mutations have been reported in the literature to date. The clinical phenotype of ARH is milder than that of homozygous familial hypercholesterolemia (FH) caused by LDL receptor gene mutations. Recently, the lipoprotein metabolism of ARH was investigated in both humans and mice by several investigators, including ourselves. Based on these findings the preserved clearance of LDL receptor-dependent very-LDL (VLDL) may be a possible mechanism underlying the responsiveness to statins and the milder phenotype of ARH. Although ARH has been described as being “recessive,” several studies, including ours, have indicated that a heterozygous carrier status of the LDLRAP1 gene is associated with mild hypercholesterolemia and exacerbates the phenotype of FH resulting from LDL receptor gene mutations. This review summarizes current understanding regarding ARH and its causative gene, LDLRAP1, and attempts to provide new insight into novel pharmacological targets for treating dyslipidemic patients. © Journal of Atherosclerosis and Thrombosis. All right received.<br />出版者照会後に全文公開 続きを見る

URL:

http://hdl.handle.net/2297/00050270