Impaired insulin secretion in four tangier disease patients with ABCA1 mutations

Masahiro Koseki, Akifumi Matsuyama, Kazuhiro Nakatani, Miwako Inagaki, Hajime Nakaoka, Ryota Kawase, Miyako Yuasa-Kawase, Kazumi Tsubakio-Yamamoto, Daisaku Masuda, Jose C. Sandoval, Tohru Ohama, Yumiko Nakagawa-Toyama, Fumihiko Matsuura, Makoto Nishida, Masato Ishigami, Ken Ichi Hirano, Naoki Sakane, Yoshitaka Kumon, Tadashi Suehiro, Tadashi NakamuraIichiro Shimomura, Shizuya Yamashita

Research output: Contribution to journalArticle

42 Citations (Scopus)

Abstract

Aim: Tangier disease (TD), caused by deficiency of ATP-binding cassette transporter A1, is characterized by the absence of high density lipoprotein and the accumulation of cholesteryl esters in many tissues. Recently, it has been reported that ABCA1 is expressed in pancreatic β cells and mice with specific inactivation of ABCA1 in β cells showed markedly impaired insulin secretion, suggesting that ABCA1 deficiency may be involved in diabetes. The aim of the current study was to confirm these findings by the oral glucose tolerance test (OGTT) in human subjects with ABCA1 deficiency. Methods and Results: Four Japanese patients with TD were investigated by OGTT with 75 g glucose. In all TD patients, the plasma glucose concentration after 30 min progressively increased, indicating a type 2 diabetic pattern; however the plasma insulin concentration did not respond well to glucose increase. The calculated insulinogenic index was significantly lower in TD patients than in non-diabetic controls (0.055±0.034 vs 0.775±0.538, mean±SD, p<0.05, respectively). Conclusions: Although the number of TD patients was very small in the current study, these observations indicated a possible mechanism that glucose-stimulated insulin secretion might be impaired in human TD patients with ABCA1 mutations. Taken together, ABCA1 may be involved in insulin secretion from pancreatic β-cells.

Original languageEnglish
Pages (from-to)292-296
Number of pages5
JournalJournal of Atherosclerosis and Thrombosis
Volume16
Issue number3
DOIs
Publication statusPublished - 01-01-2009

Fingerprint

Tangier Disease
Insulin
Glucose
Mutation
Glucose Tolerance Test
Plasmas
ATP-Binding Cassette Transporters
Cholesterol Esters
HDL Lipoproteins
Medical problems
Tissue

All Science Journal Classification (ASJC) codes

  • Internal Medicine
  • Cardiology and Cardiovascular Medicine
  • Biochemistry, medical

Cite this

Koseki, Masahiro ; Matsuyama, Akifumi ; Nakatani, Kazuhiro ; Inagaki, Miwako ; Nakaoka, Hajime ; Kawase, Ryota ; Yuasa-Kawase, Miyako ; Tsubakio-Yamamoto, Kazumi ; Masuda, Daisaku ; Sandoval, Jose C. ; Ohama, Tohru ; Nakagawa-Toyama, Yumiko ; Matsuura, Fumihiko ; Nishida, Makoto ; Ishigami, Masato ; Hirano, Ken Ichi ; Sakane, Naoki ; Kumon, Yoshitaka ; Suehiro, Tadashi ; Nakamura, Tadashi ; Shimomura, Iichiro ; Yamashita, Shizuya. / Impaired insulin secretion in four tangier disease patients with ABCA1 mutations. In: Journal of Atherosclerosis and Thrombosis. 2009 ; Vol. 16, No. 3. pp. 292-296.
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abstract = "Aim: Tangier disease (TD), caused by deficiency of ATP-binding cassette transporter A1, is characterized by the absence of high density lipoprotein and the accumulation of cholesteryl esters in many tissues. Recently, it has been reported that ABCA1 is expressed in pancreatic β cells and mice with specific inactivation of ABCA1 in β cells showed markedly impaired insulin secretion, suggesting that ABCA1 deficiency may be involved in diabetes. The aim of the current study was to confirm these findings by the oral glucose tolerance test (OGTT) in human subjects with ABCA1 deficiency. Methods and Results: Four Japanese patients with TD were investigated by OGTT with 75 g glucose. In all TD patients, the plasma glucose concentration after 30 min progressively increased, indicating a type 2 diabetic pattern; however the plasma insulin concentration did not respond well to glucose increase. The calculated insulinogenic index was significantly lower in TD patients than in non-diabetic controls (0.055±0.034 vs 0.775±0.538, mean±SD, p<0.05, respectively). Conclusions: Although the number of TD patients was very small in the current study, these observations indicated a possible mechanism that glucose-stimulated insulin secretion might be impaired in human TD patients with ABCA1 mutations. Taken together, ABCA1 may be involved in insulin secretion from pancreatic β-cells.",
author = "Masahiro Koseki and Akifumi Matsuyama and Kazuhiro Nakatani and Miwako Inagaki and Hajime Nakaoka and Ryota Kawase and Miyako Yuasa-Kawase and Kazumi Tsubakio-Yamamoto and Daisaku Masuda and Sandoval, {Jose C.} and Tohru Ohama and Yumiko Nakagawa-Toyama and Fumihiko Matsuura and Makoto Nishida and Masato Ishigami and Hirano, {Ken Ichi} and Naoki Sakane and Yoshitaka Kumon and Tadashi Suehiro and Tadashi Nakamura and Iichiro Shimomura and Shizuya Yamashita",
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Koseki, M, Matsuyama, A, Nakatani, K, Inagaki, M, Nakaoka, H, Kawase, R, Yuasa-Kawase, M, Tsubakio-Yamamoto, K, Masuda, D, Sandoval, JC, Ohama, T, Nakagawa-Toyama, Y, Matsuura, F, Nishida, M, Ishigami, M, Hirano, KI, Sakane, N, Kumon, Y, Suehiro, T, Nakamura, T, Shimomura, I & Yamashita, S 2009, 'Impaired insulin secretion in four tangier disease patients with ABCA1 mutations', Journal of Atherosclerosis and Thrombosis, vol. 16, no. 3, pp. 292-296. https://doi.org/10.5551/jat.E599

Impaired insulin secretion in four tangier disease patients with ABCA1 mutations. / Koseki, Masahiro; Matsuyama, Akifumi; Nakatani, Kazuhiro; Inagaki, Miwako; Nakaoka, Hajime; Kawase, Ryota; Yuasa-Kawase, Miyako; Tsubakio-Yamamoto, Kazumi; Masuda, Daisaku; Sandoval, Jose C.; Ohama, Tohru; Nakagawa-Toyama, Yumiko; Matsuura, Fumihiko; Nishida, Makoto; Ishigami, Masato; Hirano, Ken Ichi; Sakane, Naoki; Kumon, Yoshitaka; Suehiro, Tadashi; Nakamura, Tadashi; Shimomura, Iichiro; Yamashita, Shizuya.

In: Journal of Atherosclerosis and Thrombosis, Vol. 16, No. 3, 01.01.2009, p. 292-296.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Impaired insulin secretion in four tangier disease patients with ABCA1 mutations

AU - Koseki, Masahiro

AU - Matsuyama, Akifumi

AU - Nakatani, Kazuhiro

AU - Inagaki, Miwako

AU - Nakaoka, Hajime

AU - Kawase, Ryota

AU - Yuasa-Kawase, Miyako

AU - Tsubakio-Yamamoto, Kazumi

AU - Masuda, Daisaku

AU - Sandoval, Jose C.

AU - Ohama, Tohru

AU - Nakagawa-Toyama, Yumiko

AU - Matsuura, Fumihiko

AU - Nishida, Makoto

AU - Ishigami, Masato

AU - Hirano, Ken Ichi

AU - Sakane, Naoki

AU - Kumon, Yoshitaka

AU - Suehiro, Tadashi

AU - Nakamura, Tadashi

AU - Shimomura, Iichiro

AU - Yamashita, Shizuya

PY - 2009/1/1

Y1 - 2009/1/1

N2 - Aim: Tangier disease (TD), caused by deficiency of ATP-binding cassette transporter A1, is characterized by the absence of high density lipoprotein and the accumulation of cholesteryl esters in many tissues. Recently, it has been reported that ABCA1 is expressed in pancreatic β cells and mice with specific inactivation of ABCA1 in β cells showed markedly impaired insulin secretion, suggesting that ABCA1 deficiency may be involved in diabetes. The aim of the current study was to confirm these findings by the oral glucose tolerance test (OGTT) in human subjects with ABCA1 deficiency. Methods and Results: Four Japanese patients with TD were investigated by OGTT with 75 g glucose. In all TD patients, the plasma glucose concentration after 30 min progressively increased, indicating a type 2 diabetic pattern; however the plasma insulin concentration did not respond well to glucose increase. The calculated insulinogenic index was significantly lower in TD patients than in non-diabetic controls (0.055±0.034 vs 0.775±0.538, mean±SD, p<0.05, respectively). Conclusions: Although the number of TD patients was very small in the current study, these observations indicated a possible mechanism that glucose-stimulated insulin secretion might be impaired in human TD patients with ABCA1 mutations. Taken together, ABCA1 may be involved in insulin secretion from pancreatic β-cells.

AB - Aim: Tangier disease (TD), caused by deficiency of ATP-binding cassette transporter A1, is characterized by the absence of high density lipoprotein and the accumulation of cholesteryl esters in many tissues. Recently, it has been reported that ABCA1 is expressed in pancreatic β cells and mice with specific inactivation of ABCA1 in β cells showed markedly impaired insulin secretion, suggesting that ABCA1 deficiency may be involved in diabetes. The aim of the current study was to confirm these findings by the oral glucose tolerance test (OGTT) in human subjects with ABCA1 deficiency. Methods and Results: Four Japanese patients with TD were investigated by OGTT with 75 g glucose. In all TD patients, the plasma glucose concentration after 30 min progressively increased, indicating a type 2 diabetic pattern; however the plasma insulin concentration did not respond well to glucose increase. The calculated insulinogenic index was significantly lower in TD patients than in non-diabetic controls (0.055±0.034 vs 0.775±0.538, mean±SD, p<0.05, respectively). Conclusions: Although the number of TD patients was very small in the current study, these observations indicated a possible mechanism that glucose-stimulated insulin secretion might be impaired in human TD patients with ABCA1 mutations. Taken together, ABCA1 may be involved in insulin secretion from pancreatic β-cells.

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