A novel type of familial hypercholesterolemia: Double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene

A novel type of familial hypercholesterolemia: Double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene

フォーマット:

論文

責任表示:

Tada, Hayato ; Kawashiri, Masa-aki ; Ohtani, Rumiko ; Noguchi, Tohru ; Nakanishi, Chiaki ; Konno, Tetsuo ; Hayashi, Kenshi ; Nohara, Atsushi ; Inazu, Akihiro ; Kobayashi, Junji ; Mabuchi, Hiroshi ; Yamagishi, Masakazu

言語:

英語

出版情報:

Elsevier, 2011-12-01

著者名:

掲載情報:

Atherosclerosis

ISSN:

0021-9150

巻:

219

通号:

2

開始ページ:

663

終了ページ:

666

バージョン:

author

概要:

Background: Autosomal recessive hypercholesterolemia (ARH) is an extremely rare inherited hypercholesterolemia, the cause of which is mutations in low-density lipoprotein (LDL) receptor adaptor protein 1 (LDLRAP1) gene. Methods: A total of 146 heterozygous familial hypercholesterolemic (FH) patients with a mutation in LDLR gene were screened for genes encoding proprotein convertase subtilisin/kexin type 9 (PCSK9) and LDLRAP1. Results: Among the 146 subjects, we … identified a 79-year-old Japanese female with double mutations in LDLR gene (c.2431A > T) and LDLRAP1 gene (c.606dup). Two other relatives with double mutations in those genes in her family were also identified. Although the proband exhibited massive Achilles tendon xanthoma and coronary and aortic valvular disease, serum LDL-C level of subjects with double mutations was similar with that of subjects with single LDLR mutation (284.0 ± 43.5 versus 265.1 ± 57.4. mg/dl). Conclusion: Additional mutation in LDLRAP1 may account for severer phenotype in terms of xanthoma and atherosclerotic cardiovascular disease in FH patients. © 2011 Elsevier Ireland Ltd. 続きを見る

URL:

http://hdl.handle.net/2297/30139

タイトル・著者・出版者が同じ資料

詳細

主題:	Autosomal recessive hypercholesterolemia; Familial hypercholesterolemia; Low density lipoprotein receptor adopter protein 1; PCSK9
受理日:	2011-12-01

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1 論文 A novel type of familial hypercholesterolemia: Double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene Tada, Hayato, Kawashiri, Masa-aki, Ohtani, Rumiko, Noguchi, Tohru, Nakanishi, Chiaki, Konno, Tetsuo, Hayashia, Kenshi, … Elsevier Science Ireland	7 論文 Lipoprotein(a) in Familial Hypercholesterolemia With Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gain-of-Function Mutations. Tada, Hayato, Kawashiri, Masa-aki, Yoshida, Taiji, Teramoto, Ryota, Nohara, Atsushi, Konno, Tetsuo, Inazu, Akihiro, … Japanese Circulation Society = 日本循環器学会
2 論文 A novel type of familial hypercholesterolemia: Double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene Tada, Hayato, Kawashiri, Masa-aki, Ohtani, Rumiko, Noguchi, Tohru, Nakanishi, Chiaki, Konno, Tetsuo, Hayashi, Kenshi, … Elsevier	8 論文 Efficacy of colestimide coadministered with atorvastatin in Japanese patients with heterozygous familial hypercholesterolemia (FH) Kawashiri, Masaaki, Higashikata, Toshinori, Nohara, Atsushi, Kobayashi, Junji, Inazu, Akihiro, Koizumi, Junji, Mabuchi, … 日本循環器学会
3 論文 A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: Application of the CD3/CD28 assay in lymphocytes Tada, Hayato, Kawashiri, Masaaki, Noguchi, Tohru, Mori, Mika, Tsuchida, Masayuki, Takata, Mutsuko, Nohara, Atsushi, … Elsevier	9 論文 Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan Mabuchi, Hiroshi, Nohara, Atsushi, Noguchi, Tohru, Kobayashi, Junji, Kawashiri, Masaaki, Tada, Hayato, Nakanishi, … Elsevier
4 論文 Autosomal Recessive Hypercholesterolemia: A Mild Phenotype of Familial Hypercholesterolemia: Insight from the Kinetic Study using Stable Isotope and Animal … Tada, Hayato, Kawashiri, Masa-aki, Nohara, Atsushi, Inazu, Akihiro, Kobayashi, Junji, Mabuchi, Hiroshi, Yamagishi, … Japan Atherosclerosis Society = 日本動脈硬化学会	10 論文 Comparison of effects of bezafibrate and fenofibrate on circulating proprotein convertase subtilisin/kexin type 9 and adipocytokine levels in dyslipidemic … Noguchi, Tohru, Kobayashi, Junji, Yagi, Kunimasa, Nohara, Atsushi, Yamaaki, Naoto, Sugihara, Masako, Ito, Naoko, Oka, … Elsevier Ireland Ltd
5 論文 Changes in lipoprotein lipase and endothelial lipase mass in familial hypercholesterolemia during three-drug lipid-lowering combination therapy. Tada, Hayato, Kobayashi, Junji, Kawashiri, Masa-aki, Miyashita, Kazuya, Nohara, Atsushi, Inazu, Akihiro, Nakajima, … BioMed Central	11 論文 Assessment of Coronary atherosclerosis in patients with familial hypercholesterolemia by coronary computed tomography angiography Tada, Hayato, Kawashiri, Masa-aki, Okada, Hirofumi, Teramoto, Ryota, Konno, Tetsuo, Yoshimuta, Tsuyoshi, Sakata, Kenji, … Elsevier
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